Linked Data
ClinVar Variation Id:
386275
dbSNP Id:
rs199873583
ExAC:
11:118968757 T / G
gnomAD v2:
11-118968757-T-G
gnomAD v3:
11-119098047-T-G
gnomAD v4:
11-119098047-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119098047T>G , CM000673.2:g.119098047T>G | GRCh38 |
| NC_000011.9:g.118968757T>G , CM000673.1:g.118968757T>G | GRCh37 |
| NC_000011.8:g.118473967T>G | NCBI36 |
| NG_008918.1:g.9029A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.905-122A>C | ||
| ENST00000524658.2:n.768-4A>C | ||
| ENST00000530052.2:n.1471-4A>C | ||
| ENST00000682191.1:n.931-4A>C | ||
| ENST00000682192.1:n.931-4A>C | ||
| ENST00000682232.1:c.*434-4A>C | ENSP00000507302.1:n.*434-4A>C | |
| ENST00000682326.1:c.729-4A>C | ENSP00000508129.1:n.729-4A>C | |
| ENST00000682404.1:n.1826A>C | ||
| ENST00000682517.1:n.1826A>C | ||
| ENST00000682652.1:n.1700-4A>C | ||
| ENST00000682665.1:n.1126-4A>C | ||
| ENST00000682691.1:n.1126-4A>C | ||
| ENST00000682791.1:c.642-4A>C | ENSP00000507312.1:n.642-4A>C | |
| ENST00000682811.1:c.729-122A>C | ENSP00000508196.1:n.729-122A>C | |
| ENST00000682883.1:n.1031+356A>C | ||
| ENST00000682946.1:c.728+356A>C | ENSP00000506856.1:n.728+356A>C | |
| ENST00000683143.1:c.*434-4A>C | ENSP00000507168.1:n.*434-4A>C | |
| ENST00000683373.1:n.931-4A>C | ||
| ENST00000683558.1:n.931-4A>C | ||
| ENST00000683567.1:n.956-122A>C | ||
| ENST00000683955.1:n.1481A>C | ||
| ENST00000684142.1:c.*404-4A>C | ENSP00000508008.1:n.*404-4A>C | |
| ENST00000684252.1:n.1126-4A>C | ||
| ENST00000684255.1:c.*434-4A>C | ENSP00000507398.1:n.*434-4A>C | |
| ENST00000684315.1:n.1462-4A>C | ||
| ENST00000684345.1:c.*404-4A>C | ENSP00000507163.1:n.*404-4A>C | |
| ENST00000684499.1:c.*834-4A>C | ENSP00000506800.1:n.*834-4A>C | |
| ENST00000684682.1:c.*157-4A>C | ENSP00000507326.1:n.*157-4A>C | |
| ENST00000354202.9:c.729-4A>C MANE Select | ENSP00000346142.4:n.729-4A>C | |
| ENST00000636404.1:c.232+356A>C | ||
| ENST00000638850.1:c.233-4A>C | ||
| ENST00000639704.1:c.636-4A>C | ENSP00000491336.1:n.636-4A>C | |
| ENST00000640102.1:c.*382-4A>C | ENSP00000492027.1:n.*382-4A>C | |
| ENST00000640747.1:c.*404-4A>C | ENSP00000492730.1:n.*404-4A>C | |
| ENST00000354202.8:c.729-4A>C | ENSP00000346142.4:n.729-4A>C | |
| ENST00000392834.7:c.*434-4A>C | ENSP00000376579.3:n.*434-4A>C | |
| ENST00000409993.6:c.729-4A>C | ENSP00000386597.2:n.729-4A>C | |
| ENST00000414373.5:c.*474+356A>C | ENSP00000402019.1:n.*474+356A>C | |
| ENST00000442480.1:c.579-122A>C | ENSP00000406591.1:n.579-122A>C | |
| ENST00000461999.1:n.589A>C | ||
| ENST00000481084.5:n.1358-4A>C | ||
| ENST00000524658.1:n.34-4A>C | ||
| ENST00000525456.5:n.731+356A>C | ||
| ENST00000530052.1:n.627-4A>C | ||
| NM_001382.3:c.729-4A>C | NP_001373.2:n.729-4A>C | |
| XM_005271422.2:c.729-4A>C | XP_005271479.1:n.729-4A>C | |
| XM_011542648.1:c.408-4A>C | XP_011540950.1:n.408-4A>C | |
| XR_947801.1:n.1164+356A>C | ||
| XM_005271422.3:c.729-4A>C | XP_005271479.1:n.729-4A>C | |
| XM_011542648.2:c.408-4A>C | XP_011540950.1:n.408-4A>C | |
| XM_017017293.2:c.408-4A>C | XP_016872782.1:n.408-4A>C | |
| XM_017017294.2:c.728+356A>C | XP_016872783.1:n.728+356A>C | |
| XM_017017295.1:c.213-4A>C | XP_016872784.1:n.213-4A>C | |
| XR_001747785.2:n.951+356A>C | ||
| XR_947801.2:n.951+356A>C | ||
| NM_001382.4:c.729-4A>C MANE Select | NP_001373.2:n.729-4A>C |