Linked Data
ClinVar Variation Id:
368940
dbSNP Id:
rs74992671
gnomAD v2:
11-118967549-C-T
gnomAD v3:
11-119096839-C-T
gnomAD v4:
11-119096839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119096839C>T , CM000673.2:g.119096839C>T | GRCh38 |
| NC_000011.9:g.118967549C>T , CM000673.1:g.118967549C>T | GRCh37 |
| NC_000011.8:g.118472759C>T | NCBI36 |
| NG_008918.1:g.10237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.1610G>A | ||
| ENST00000524658.2:n.1669G>A | ||
| ENST00000530052.2:n.2675G>A | ||
| ENST00000682191.1:n.1969G>A | ||
| ENST00000682192.1:n.1832G>A | ||
| ENST00000682232.1:c.*1003G>A | ENSP00000507302.1:n.*1003G>A | |
| ENST00000682326.1:c.*356G>A | ENSP00000508129.1:n.*356G>A | |
| ENST00000682404.1:n.2731G>A | ||
| ENST00000682517.1:n.2956G>A | ||
| ENST00000682652.1:n.2738G>A | ||
| ENST00000682665.1:n.2330G>A | ||
| ENST00000682691.1:n.2252G>A | ||
| ENST00000682791.1:c.*159G>A | ENSP00000507312.1:n.*159G>A | |
| ENST00000682811.1:c.*437G>A | ENSP00000508196.1:n.*437G>A | |
| ENST00000682883.1:n.1490G>A | ||
| ENST00000682946.1:c.*468G>A | ENSP00000506856.1:n.*468G>A | |
| ENST00000683143.1:c.*1091G>A | ENSP00000507168.1:n.*1091G>A | |
| ENST00000683373.1:n.1891G>A | ||
| ENST00000683558.1:n.2135G>A | ||
| ENST00000683567.1:n.1495G>A | ||
| ENST00000683955.1:n.2142G>A | ||
| ENST00000684142.1:c.*1227G>A | ENSP00000508008.1:n.*1227G>A | |
| ENST00000684252.1:n.2027G>A | ||
| ENST00000684255.1:c.*1257G>A | ENSP00000507398.1:n.*1257G>A | |
| ENST00000684315.1:n.2197G>A | ||
| ENST00000684345.1:c.*1530G>A | ENSP00000507163.1:n.*1530G>A | |
| ENST00000684499.1:c.*1657G>A | ENSP00000506800.1:n.*1657G>A | |
| ENST00000684682.1:c.*1361G>A | ENSP00000507326.1:n.*1361G>A | |
| ENST00000354202.9:c.*159G>A MANE Select | ENSP00000346142.4:n.*159G>A | |
| ENST00000636404.1:c.457G>A | ||
| ENST00000638850.1:c.909G>A | ||
| ENST00000639704.1:c.*159G>A | ENSP00000491336.1:n.*159G>A | |
| ENST00000640747.1:c.*1061G>A | ENSP00000492730.1:n.*1061G>A | |
| ENST00000354202.8:c.*159G>A | ENSP00000346142.4:n.*159G>A | |
| ENST00000392834.7:c.*1091G>A | ENSP00000376579.3:n.*1091G>A | |
| ENST00000409993.6:c.*159G>A | ENSP00000386597.2:n.*159G>A | |
| ENST00000414373.5:c.*855G>A | ENSP00000402019.1:n.*855G>A | |
| ENST00000461999.1:n.1797G>A | ||
| ENST00000481084.5:n.2015G>A | ||
| NM_001382.3:c.*159G>A | NP_001373.2:n.*159G>A | |
| XM_005271422.2:c.*159G>A | XP_005271479.1:n.*159G>A | |
| XM_011542648.1:c.*159G>A | XP_011540950.1:n.*159G>A | |
| XR_947801.1:n.1545G>A | ||
| XM_005271422.3:c.*159G>A | XP_005271479.1:n.*159G>A | |
| XM_011542648.2:c.*159G>A | XP_011540950.1:n.*159G>A | |
| XM_017017293.2:c.*159G>A | XP_016872782.1:n.*159G>A | |
| XM_017017294.2:c.*712G>A | XP_016872783.1:n.*712G>A | |
| XM_017017295.1:c.*159G>A | XP_016872784.1:n.*159G>A | |
| XR_001747785.2:n.1420G>A | ||
| XR_947801.2:n.1332G>A | ||
| NM_001382.4:c.*159G>A MANE Select | NP_001373.2:n.*159G>A |