Linked Data
ClinVar Variation Id:
521719
dbSNP Id:
rs772988029
ExAC:
11:118968743 G / A
gnomAD v2:
11-118968743-G-A
gnomAD v3:
11-119098033-G-A
gnomAD v4:
11-119098033-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119098033G>A , CM000673.2:g.119098033G>A | GRCh38 |
| NC_000011.9:g.118968743G>A , CM000673.1:g.118968743G>A | GRCh37 |
| NC_000011.8:g.118473953G>A | NCBI36 |
| NG_008918.1:g.9043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.905-108C>T | ||
| ENST00000524658.2:n.778C>T | ||
| ENST00000530052.2:n.1481C>T | ||
| ENST00000682191.1:n.941C>T | ||
| ENST00000682192.1:n.941C>T | ||
| ENST00000682232.1:c.*444C>T | ENSP00000507302.1:n.*444C>T | |
| ENST00000682326.1:c.739C>T | ENSP00000508129.1:p.Arg247Trp | |
| ENST00000682404.1:n.1840C>T | ||
| ENST00000682517.1:n.1840C>T | ||
| ENST00000682652.1:n.1710C>T | ||
| ENST00000682665.1:n.1136C>T | ||
| ENST00000682691.1:n.1136C>T | ||
| ENST00000682791.1:c.652C>T | ENSP00000507312.1:p.Arg218Trp | |
| ENST00000682811.1:c.729-108C>T | ENSP00000508196.1:n.729-108C>T | |
| ENST00000682883.1:n.1031+370C>T | ||
| ENST00000682946.1:c.728+370C>T | ENSP00000506856.1:n.728+370C>T | |
| ENST00000683143.1:c.*444C>T | ENSP00000507168.1:n.*444C>T | |
| ENST00000683373.1:n.941C>T | ||
| ENST00000683558.1:n.941C>T | ||
| ENST00000683567.1:n.956-108C>T | ||
| ENST00000683955.1:n.1495C>T | ||
| ENST00000684142.1:c.*414C>T | ENSP00000508008.1:n.*414C>T | |
| ENST00000684252.1:n.1136C>T | ||
| ENST00000684255.1:c.*444C>T | ENSP00000507398.1:n.*444C>T | |
| ENST00000684315.1:n.1472C>T | ||
| ENST00000684345.1:c.*414C>T | ENSP00000507163.1:n.*414C>T | |
| ENST00000684499.1:c.*844C>T | ENSP00000506800.1:n.*844C>T | |
| ENST00000684682.1:c.*167C>T | ENSP00000507326.1:n.*167C>T | |
| ENST00000354202.9:c.739C>T MANE Select | ENSP00000346142.4:p.Arg247Trp | |
| ENST00000636404.1:c.232+370C>T | ||
| ENST00000638850.1:c.243C>T | ||
| ENST00000639704.1:c.646C>T | ENSP00000491336.1:p.Arg216Trp | |
| ENST00000640102.1:c.*392C>T | ENSP00000492027.1:n.*392C>T | |
| ENST00000640747.1:c.*414C>T | ENSP00000492730.1:n.*414C>T | |
| ENST00000354202.8:c.739C>T | ENSP00000346142.4:p.Arg247Trp | |
| ENST00000392834.7:c.*444C>T | ENSP00000376579.3:n.*444C>T | |
| ENST00000409993.6:c.739C>T | ENSP00000386597.2:p.Arg247Trp | |
| ENST00000414373.5:c.*474+370C>T | ENSP00000402019.1:n.*474+370C>T | |
| ENST00000442480.1:c.579-108C>T | ENSP00000406591.1:n.579-108C>T | |
| ENST00000461999.1:n.603C>T | ||
| ENST00000481084.5:n.1368C>T | ||
| ENST00000524658.1:n.44C>T | ||
| ENST00000525456.5:n.731+370C>T | ||
| ENST00000530052.1:n.637C>T | ||
| NM_001382.3:c.739C>T | NP_001373.2:p.Arg247Trp | |
| XM_005271422.2:c.739C>T | XP_005271479.1:p.Arg247Trp | |
| XM_011542648.1:c.418C>T | XP_011540950.1:p.Arg140Trp | |
| XR_947801.1:n.1164+370C>T | ||
| XM_005271422.3:c.739C>T | XP_005271479.1:p.Arg247Trp | |
| XM_011542648.2:c.418C>T | XP_011540950.1:p.Arg140Trp | |
| XM_017017293.2:c.418C>T | XP_016872782.1:p.Arg140Trp | |
| XM_017017294.2:c.728+370C>T | XP_016872783.1:n.728+370C>T | |
| XM_017017295.1:c.223C>T | XP_016872784.1:p.Arg75Trp | |
| XR_001747785.2:n.951+370C>T | ||
| XR_947801.2:n.951+370C>T | ||
| NM_001382.4:c.739C>T MANE Select | NP_001373.2:p.Arg247Trp |