ClinVar Variation Id:
377475

dbSNP Id:
rs56173868

ExAC:
4:114254240 G / A

gnomAD:
4:114254240 G / A

HGVS | Genome Assembly |
---|---|

NC_000004.12:g.113333084G>A , CM000666.2:g.113333084G>A | GRCh38 |

NC_000004.11:g.114254240G>A , CM000666.1:g.114254240G>A | GRCh37 |

NC_000004.10:g.114473689G>A | NCBI36 |

NG_009006.2:g.520002G>A , LRG_327:g.520002G>A |

HGVS | Amino-acid change | |
---|---|---|

ENST00000357077.9:c.3255G>A MANE Select | ENSP00000349588.4:p.Ala1085= | |

ENST00000503423.6:c.3093G>A | ENSP00000421011.2:p.Ala1031= | |

ENST00000505342.6:c.642G>A | ENSP00000422498.2:p.Ala214= | |

ENST00000671704.1:c.3069G>A | ENSP00000500926.1:p.Ala1023= | |

ENST00000671727.1:c.3156G>A | ENSP00000500102.1:p.Ala1052= | |

ENST00000671756.1:c.3093G>A | ENSP00000500712.1:p.Ala1031= | |

ENST00000671762.1:c.3291G>A | ENSP00000500954.1:p.Ala1097= | |

ENST00000671793.1:c.3192G>A | ENSP00000499928.1:p.Ala1064= | |

ENST00000671809.1:c.3129G>A | ENSP00000500872.1:p.Ala1043= | |

ENST00000671825.1:c.3192G>A | ENSP00000500459.1:p.Ala1064= | |

ENST00000671854.1:c.2994G>A | ENSP00000500833.1:p.Ala998= | |

ENST00000671863.1:c.3093G>A | ENSP00000500855.1:p.Ala1031= | |

ENST00000671882.1:n.3072G>A | ENSP00000499887.1:p.Ala1024= | |

ENST00000671893.1:c.2871G>A | ENSP00000499986.1:p.Ala957= | |

ENST00000671906.1:c.3069G>A | ENSP00000499953.1:p.Ala1023= | |

ENST00000671951.1:c.2970G>A | ENSP00000500528.1:p.Ala990= | |

ENST00000671971.1:c.3300G>A | ENSP00000499832.1:p.Ala1100= | |

ENST00000672045.1:c.3093G>A | ENSP00000499959.1:p.Ala1031= | |

ENST00000672068.1:c.3093G>A | ENSP00000499902.1:p.Ala1031= | |

ENST00000672088.1:c.3069G>A | ENSP00000499837.1:p.Ala1023= | |

ENST00000672090.1:c.3093G>A | ENSP00000500540.1:p.Ala1031= | |

ENST00000672177.1:c.3105G>A | ENSP00000500918.1:p.Ala1035= | |

ENST00000672209.1:c.3093G>A | ENSP00000499982.1:p.Ala1031= | |

ENST00000672221.1:c.3069G>A | ENSP00000500473.1:p.Ala1023= | |

ENST00000672240.1:c.3336G>A | ENSP00000500548.1:p.Ala1112= | |

ENST00000672246.1:c.3078G>A | ENSP00000499990.1:p.Ala1026= | |

ENST00000672251.1:c.3057G>A | ENSP00000500580.1:p.Ala1019= | |

ENST00000672312.1:c.3093G>A | ENSP00000500378.1:p.Ala1031= | |

ENST00000672315.1:c.3192G>A | ENSP00000500780.1:p.Ala1064= | |

ENST00000672350.1:c.3030G>A | ENSP00000500420.1:p.Ala1010= | |

ENST00000672356.1:c.2970G>A | ENSP00000500544.1:p.Ala990= | |

ENST00000672362.1:c.3228G>A | ENSP00000500522.1:p.Ala1076= | |

ENST00000672366.1:c.3156G>A | ENSP00000500937.1:p.Ala1052= | |

ENST00000672402.1:c.3192G>A | ENSP00000500881.1:p.Ala1064= | |

ENST00000672411.1:c.819G>A | ENSP00000499979.1:p.Ala273= | |

ENST00000672502.1:c.3156G>A | ENSP00000499870.1:p.Ala1052= | |

ENST00000672684.1:c.2994G>A | ENSP00000499943.1:p.Ala998= | |

ENST00000672696.1:c.3192G>A | ENSP00000499828.1:p.Ala1064= | |

ENST00000672731.1:c.3069G>A | ENSP00000500908.1:p.Ala1023= | |

ENST00000672759.1:c.2970G>A | ENSP00000499881.1:p.Ala990= | |

ENST00000672779.1:c.3300G>A | ENSP00000499869.1:p.Ala1100= | |

ENST00000672793.1:c.3093G>A | ENSP00000500150.1:p.Ala1031= | |

ENST00000672830.1:c.3192G>A | ENSP00000500222.1:p.Ala1064= | |

ENST00000672854.1:c.3057G>A | ENSP00000500311.1:p.Ala1019= | |

ENST00000672880.1:c.3093G>A | ENSP00000500866.1:p.Ala1031= | |

ENST00000672915.1:c.642G>A | ENSP00000500622.1:p.Ala214= | |

ENST00000672930.1:c.3093G>A | ENSP00000499913.1:p.Ala1031= | |

ENST00000672934.1:c.2994G>A | ENSP00000500645.1:p.Ala998= | |

ENST00000672955.1:c.3069G>A | ENSP00000500527.1:p.Ala1023= | |

ENST00000672965.1:c.3129G>A | ENSP00000499891.1:p.Ala1043= | |

ENST00000672986.1:c.2673G>A | ENSP00000499967.1:p.Ala891= | |

ENST00000672990.1:c.3129G>A | ENSP00000500275.1:p.Ala1043= | |

ENST00000673044.1:c.3192G>A | ENSP00000500933.1:p.Ala1064= | |

ENST00000673048.1:c.783G>A | ENSP00000500832.1:p.Ala261= | |

ENST00000673109.1:c.2970G>A | ENSP00000500265.1:p.Ala990= | |

ENST00000673231.1:c.819G>A | ENSP00000500111.1:p.Ala273= | |

ENST00000673240.1:c.3300G>A | ENSP00000499996.1:p.Ala1100= | |

ENST00000673255.1:c.3093G>A | ENSP00000500423.1:p.Ala1031= | |

ENST00000673298.1:c.3093G>A | ENSP00000500245.1:p.Ala1031= | |

ENST00000673334.1:c.3093G>A | ENSP00000500854.1:p.Ala1031= | |

ENST00000673353.1:c.783G>A | ENSP00000500007.1:p.Ala261= | |

ENST00000673363.1:c.3201G>A | ENSP00000500539.1:p.Ala1067= | |

ENST00000673430.1:c.3093G>A | ENSP00000500269.1:p.Ala1031= | |

ENST00000673453.1:c.3054G>A | ENSP00000500112.1:p.Ala1018= | |

ENST00000673536.1:c.2763G>A | ENSP00000500524.1:p.Ala921= | |

ENST00000673538.1:c.783G>A | ENSP00000500842.1:p.Ala261= | |

ENST00000673546.1:c.3030G>A | ENSP00000500843.1:p.Ala1010= | |

ENST00000673555.1:c.3093G>A | ENSP00000500947.1:p.Ala1031= | |

ENST00000673573.1:c.3030G>A | ENSP00000500883.1:p.Ala1010= | |

ENST00000673943.1:n.2913G>A | ENSP00000501090.1:p.Ala971= | |

ENST00000264366.10:n.3156G>A | ENSP00000264366.6:p.Ala1052= | |

ENST00000357077.8:c.3255G>A | ENSP00000349588.4:p.Ala1085= | |

ENST00000394537.7:c.3255G>A | ENSP00000378044.3:p.Ala1085= | |

ENST00000503271.5:c.3192G>A | ENSP00000423799.1:p.Ala1064= | |

ENST00000503423.5:c.2994G>A | ENSP00000421011.1:p.Ala998= | |

ENST00000504454.5:c.3300G>A | ENSP00000424722.1:p.Ala1100= | |

ENST00000506722.5:c.3228G>A | ENSP00000421067.1:p.Ala1076= | |

ENST00000509550.5:c.783G>A | ENSP00000426944.1:p.Ala261= | |

ENST00000514160.1:n.103G>A | ||

ENST00000514960.5:n.292G>A | ||

ENST00000634436.1:n.3168G>A | ENSP00000489091.1:p.Ala1056= | |

NM_001127493.1:c.3228G>A , LRG_327t2:c.3228G>A | NP_001120965.1:p.Ala1076= | |

NM_001148.4:c.3255G>A , LRG_327t1:c.3255G>A | NP_001139.3:p.Ala1085= | |

NM_020977.3:c.3255G>A | NP_066187.2:p.Ala1085= | |

XM_005262942.3:c.3288G>A | XP_005262999.1:p.Ala1096= | |

XM_005262945.1:c.3156G>A | XP_005263002.1:p.Ala1052= | |

XM_005262948.3:c.3252G>A | XP_005263005.1:p.Ala1084= | |

XM_006714188.2:c.3342G>A | XP_006714251.1:p.Ala1114= | |

XM_006714189.2:c.3306G>A | XP_006714252.1:p.Ala1102= | |

XM_006714190.2:c.3342G>A | XP_006714253.1:p.Ala1114= | |

XM_006714191.2:c.3342G>A | XP_006714254.1:p.Ala1114= | |

XM_006714192.2:c.3306G>A | XP_006714255.1:p.Ala1102= | |

XM_006714193.2:c.3342G>A | XP_006714256.1:p.Ala1114= | |

XM_006714194.2:c.3282G>A | XP_006714257.1:p.Ala1094= | |

XM_011531891.1:c.3327G>A | XP_011530193.1:p.Ala1109= | |

NM_001127493.2:c.3228G>A | NP_001120965.1:p.Ala1076= | |

NM_001148.5:c.3255G>A | NP_001139.3:p.Ala1085= | |

NM_001354225.1:c.3267G>A | NP_001341154.1:p.Ala1089= | |

NM_001354228.1:c.3156G>A | NP_001341157.1:p.Ala1052= | |

NM_001354230.1:c.3234G>A | NP_001341159.1:p.Ala1078= | |

NM_001354231.1:c.3297G>A | NP_001341160.1:p.Ala1099= | |

NM_001354232.1:c.3291G>A | NP_001341161.1:p.Ala1097= | |

NM_001354235.1:c.3252G>A | NP_001341164.1:p.Ala1084= | |

NM_001354236.1:c.3153G>A | NP_001341165.1:p.Ala1051= | |

NM_001354237.1:c.3333G>A | NP_001341166.1:p.Ala1111= | |

NM_001354239.1:c.3225G>A | NP_001341168.1:p.Ala1075= | |

NM_001354240.1:c.3300G>A | NP_001341169.1:p.Ala1100= | |

NM_001354241.1:c.3300G>A | NP_001341170.1:p.Ala1100= | |

NM_001354242.1:c.3297G>A | NP_001341171.1:p.Ala1099= | |

NM_001354243.1:c.3192G>A | NP_001341172.1:p.Ala1064= | |

NM_001354244.1:c.3189G>A | NP_001341173.1:p.Ala1063= | |

NM_001354245.1:c.3093G>A | NP_001341174.1:p.Ala1031= | |

NM_001354246.1:c.3252G>A | NP_001341175.1:p.Ala1084= | |

NM_001354249.1:c.3069G>A | NP_001341178.1:p.Ala1023= | |

NM_001354252.1:c.3225G>A | NP_001341181.1:p.Ala1075= | |

NM_001354253.1:c.3030G>A | NP_001341182.1:p.Ala1010= | |

NM_001354254.1:c.3204G>A | NP_001341183.1:p.Ala1068= | |

NM_001354255.1:c.3192G>A | NP_001341184.1:p.Ala1064= | |

NM_001354256.1:c.3189G>A | NP_001341185.1:p.Ala1063= | |

NM_001354257.1:c.2994G>A | NP_001341186.1:p.Ala998= | |

NM_001354258.1:c.3156G>A | NP_001341187.1:p.Ala1052= | |

NM_001354260.1:c.2970G>A | NP_001341189.1:p.Ala990= | |

NM_001354261.1:c.3114G>A | NP_001341190.1:p.Ala1038= | |

NM_001354262.1:c.3093G>A | NP_001341191.1:p.Ala1031= | |

NM_001354264.1:c.3069G>A | NP_001341193.1:p.Ala1023= | |

NM_001354265.1:c.3252G>A | NP_001341194.1:p.Ala1084= | |

NM_001354266.1:c.3069G>A | NP_001341195.1:p.Ala1023= | |

NM_001354267.1:c.3069G>A | NP_001341196.1:p.Ala1023= | |

NM_001354268.1:c.3057G>A | NP_001341197.1:p.Ala1019= | |

NM_001354269.1:c.3042G>A | NP_001341198.1:p.Ala1014= | |

NM_001354270.1:c.3030G>A | NP_001341199.1:p.Ala1010= | |

NM_001354271.1:c.2970G>A | NP_001341200.1:p.Ala990= | |

NM_001354272.1:c.3126G>A | NP_001341201.1:p.Ala1042= | |

NM_001354273.1:c.2955G>A | NP_001341202.1:p.Ala985= | |

NM_001354274.1:c.3054G>A | NP_001341203.1:p.Ala1018= | |

NM_001354275.1:c.3093G>A | NP_001341204.1:p.Ala1031= | |

NM_001354276.1:c.3069G>A | NP_001341205.1:p.Ala1023= | |

NM_001354277.1:c.2871G>A | NP_001341206.1:p.Ala957= | |

NM_001354278.1:c.783G>A | NP_001341207.1:p.Ala261= | |

NM_001354279.1:c.819G>A | NP_001341208.1:p.Ala273= | |

NM_001354280.1:c.783G>A | NP_001341209.1:p.Ala261= | |

NM_001354281.1:c.783G>A | NP_001341210.1:p.Ala261= | |

NM_001354282.1:c.819G>A | NP_001341211.1:p.Ala273= | |

NM_020977.4:c.3255G>A | NP_066187.2:p.Ala1085= | |

XM_005262945.3:c.3156G>A | XP_005263002.1:p.Ala1052= | |

XM_017008067.1:c.3396G>A | XP_016863556.1:p.Ala1132= | |

XM_017008069.1:c.3372G>A | XP_016863558.1:p.Ala1124= | |

XM_017008071.2:c.3282G>A | XP_016863560.1:p.Ala1094= | |

XM_017008072.2:c.3258G>A | XP_016863561.1:p.Ala1086= | |

XM_017008073.2:c.3255G>A | XP_016863562.1:p.Ala1085= | |

XM_017008074.2:c.3228G>A | XP_016863563.1:p.Ala1076= | |

XM_017008075.2:c.3192G>A | XP_016863564.1:p.Ala1064= | |

XM_017008076.2:c.3255G>A | XP_016863565.1:p.Ala1085= | |

XM_017008077.2:c.3069G>A | XP_016863566.1:p.Ala1023= | |

XM_017008078.2:c.3255G>A | XP_016863567.1:p.Ala1085= | |

XM_017008080.2:c.3105G>A | XP_016863569.1:p.Ala1035= | |

XM_024454016.1:c.3291G>A | XP_024309784.1:p.Ala1097= | |

XM_024454017.1:c.3291G>A | XP_024309785.1:p.Ala1097= | |

XM_024454018.1:c.3156G>A | XP_024309786.1:p.Ala1052= | |

XM_024454019.1:c.3234G>A | XP_024309787.1:p.Ala1078= | |

XM_024454020.1:c.3156G>A | XP_024309788.1:p.Ala1052= | |

XM_024454021.1:c.3153G>A | XP_024309789.1:p.Ala1051= | |

XM_024454022.1:c.3093G>A | XP_024309790.1:p.Ala1031= | |

XM_024454023.1:c.2955G>A | XP_024309791.1:p.Ala985= | |

NM_001148.6:c.3255G>A MANE Select | NP_001139.3:p.Ala1085= | |

NM_001127493.3:c.3228G>A | NP_001120965.1:p.Ala1076= | |

NM_001354225.2:c.3267G>A | NP_001341154.1:p.Ala1089= | |

NM_001354228.2:c.3156G>A | NP_001341157.1:p.Ala1052= | |

NM_001354230.2:c.3234G>A | NP_001341159.1:p.Ala1078= | |

NM_001354231.2:c.3297G>A | NP_001341160.1:p.Ala1099= | |

NM_001354232.2:c.3291G>A | NP_001341161.1:p.Ala1097= | |

NM_001354235.2:c.3252G>A | NP_001341164.1:p.Ala1084= | |

NM_001354236.2:c.3153G>A | NP_001341165.1:p.Ala1051= | |

NM_001354237.2:c.3333G>A | NP_001341166.1:p.Ala1111= | |

NM_001354239.2:c.3225G>A | NP_001341168.1:p.Ala1075= | |

NM_001354240.2:c.3300G>A | NP_001341169.1:p.Ala1100= | |

NM_001354241.2:c.3300G>A | NP_001341170.1:p.Ala1100= | |

NM_001354242.2:c.3297G>A | NP_001341171.1:p.Ala1099= | |

NM_001354243.2:c.3192G>A | NP_001341172.1:p.Ala1064= | |

NM_001354244.2:c.3189G>A | NP_001341173.1:p.Ala1063= | |

NM_001354245.2:c.3093G>A | NP_001341174.1:p.Ala1031= | |

NM_001354246.2:c.3252G>A | NP_001341175.1:p.Ala1084= | |

NM_001354249.2:c.3069G>A | NP_001341178.1:p.Ala1023= | |

NM_001354252.2:c.3225G>A | NP_001341181.1:p.Ala1075= | |

NM_001354253.2:c.3030G>A | NP_001341182.1:p.Ala1010= | |

NM_001354254.2:c.3204G>A | NP_001341183.1:p.Ala1068= | |

NM_001354255.2:c.3192G>A | NP_001341184.1:p.Ala1064= | |

NM_001354256.2:c.3189G>A | NP_001341185.1:p.Ala1063= | |

NM_001354257.2:c.2994G>A | NP_001341186.1:p.Ala998= | |

NM_001354258.2:c.3156G>A | NP_001341187.1:p.Ala1052= | |

NM_001354260.2:c.2970G>A | NP_001341189.1:p.Ala990= | |

NM_001354261.2:c.3114G>A | NP_001341190.1:p.Ala1038= | |

NM_001354262.2:c.3093G>A | NP_001341191.1:p.Ala1031= | |

NM_001354264.2:c.3069G>A | NP_001341193.1:p.Ala1023= | |

NM_001354265.2:c.3252G>A | NP_001341194.1:p.Ala1084= | |

NM_001354266.2:c.3069G>A | NP_001341195.1:p.Ala1023= | |

NM_001354267.2:c.3069G>A | NP_001341196.1:p.Ala1023= | |

NM_001354268.2:c.3057G>A | NP_001341197.1:p.Ala1019= | |

NM_001354269.3:c.3042G>A | NP_001341198.1:p.Ala1014= | |

NM_001354270.2:c.3030G>A | NP_001341199.1:p.Ala1010= | |

NM_001354271.2:c.2970G>A | NP_001341200.1:p.Ala990= | |

NM_001354272.2:c.3126G>A | NP_001341201.1:p.Ala1042= | |

NM_001354273.2:c.2955G>A | NP_001341202.1:p.Ala985= | |

NM_001354274.2:c.3054G>A | NP_001341203.1:p.Ala1018= | |

NM_001354275.2:c.3093G>A | NP_001341204.1:p.Ala1031= | |

NM_001354276.2:c.3069G>A | NP_001341205.1:p.Ala1023= | |

NM_001354277.2:c.2871G>A | NP_001341206.1:p.Ala957= | |

NM_001354278.2:c.783G>A | NP_001341207.1:p.Ala261= | |

NM_001354279.2:c.819G>A | NP_001341208.1:p.Ala273= | |

NM_001354280.2:c.783G>A | NP_001341209.1:p.Ala261= | |

NM_001354281.2:c.783G>A | NP_001341210.1:p.Ala261= | |

NM_001354282.2:c.819G>A | NP_001341211.1:p.Ala273= | |

NM_001386142.1:c.3054G>A | NP_001373071.1:p.Ala1018= | |

NM_001386143.1:c.3192G>A | NP_001373072.1:p.Ala1064= | |

NM_001386144.1:c.3300G>A | NP_001373073.1:p.Ala1100= | |

NM_001386146.1:c.3069G>A | NP_001373075.1:p.Ala1023= | |

NM_001386147.1:c.3114G>A | NP_001373076.1:p.Ala1038= | |

NM_001386148.2:c.3240G>A | NP_001373077.1:p.Ala1080= | |

NM_001386149.1:c.3069G>A | NP_001373078.1:p.Ala1023= | |

NM_001386150.1:c.3069G>A | NP_001373079.1:p.Ala1023= | |

NM_001386151.1:c.2970G>A | NP_001373080.1:p.Ala990= | |

NM_001386152.1:c.3312G>A | NP_001373081.1:p.Ala1104= | |

NM_001386153.1:c.3069G>A | NP_001373082.1:p.Ala1023= | |

NM_001386154.1:c.3054G>A | NP_001373083.1:p.Ala1018= | |

NM_001386156.1:c.2994G>A | NP_001373085.1:p.Ala998= | |

NM_001386157.1:c.2871G>A | NP_001373086.1:p.Ala957= | |

NM_001386158.1:c.2772G>A | NP_001373087.1:p.Ala924= | |

NM_001386160.1:c.3099G>A | NP_001373089.1:p.Ala1033= | |

NM_001386161.1:c.3189G>A | NP_001373090.1:p.Ala1063= | |

NM_001386162.1:c.3069G>A | NP_001373091.1:p.Ala1023= | |

NM_001386174.1:c.3396G>A | NP_001373103.1:p.Ala1132= | |

NM_001386175.1:c.3372G>A | NP_001373104.1:p.Ala1124= | |

NM_001386186.2:c.3240G>A | NP_001373115.1:p.Ala1080= | |

NM_001386187.2:c.3120G>A | NP_001373116.1:p.Ala1040= | |

NM_020977.5:c.3255G>A | NP_066187.2:p.Ala1085= |