Linked Data
ClinVar Variation Id:
36918
dbSNP Id:
rs387907243
gnomAD v4:
11-119100777-C-T
PubMed:
PMID:22742743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100777C>T , CM000673.2:g.119100777C>T | GRCh38 |
| NC_000011.9:g.118971487C>T , CM000673.1:g.118971487C>T | GRCh37 |
| NC_000011.8:g.118476697C>T | NCBI36 |
| NG_008918.1:g.6299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.525G>A | ||
| ENST00000530052.2:n.1091G>A | ||
| ENST00000682191.1:n.551G>A | ||
| ENST00000682192.1:n.551G>A | ||
| ENST00000682232.1:c.*54G>A | ENSP00000507302.1:n.*54G>A | |
| ENST00000682326.1:c.349G>A | ENSP00000508129.1:p.Val117Ile | |
| ENST00000682404.1:n.1091G>A | ||
| ENST00000682517.1:n.1091G>A | ||
| ENST00000682652.1:n.1320G>A | ||
| ENST00000682665.1:n.746G>A | ||
| ENST00000682691.1:n.746G>A | ||
| ENST00000682791.1:c.262G>A | ENSP00000507312.1:p.Val88Ile | |
| ENST00000682811.1:c.349G>A | ENSP00000508196.1:p.Val117Ile | |
| ENST00000682883.1:n.652G>A | ||
| ENST00000682946.1:c.349G>A | ENSP00000506856.1:p.Val117Ile | |
| ENST00000683143.1:c.*54G>A | ENSP00000507168.1:n.*54G>A | |
| ENST00000683373.1:n.551G>A | ||
| ENST00000683558.1:n.551G>A | ||
| ENST00000683567.1:n.576G>A | ||
| ENST00000683955.1:n.746G>A | ||
| ENST00000684142.1:c.*24G>A | ENSP00000508008.1:n.*24G>A | |
| ENST00000684252.1:n.746G>A | ||
| ENST00000684255.1:c.*54G>A | ENSP00000507398.1:n.*54G>A | |
| ENST00000684315.1:n.1082G>A | ||
| ENST00000684345.1:c.*24G>A | ENSP00000507163.1:n.*24G>A | |
| ENST00000684499.1:c.*454G>A | ENSP00000506800.1:n.*454G>A | |
| ENST00000684682.1:c.162-369G>A | ENSP00000507326.1:n.162-369G>A | |
| ENST00000354202.9:c.349G>A MANE Select | ENSP00000346142.4:p.Val117Ile | |
| ENST00000639704.1:c.283-27G>A | ENSP00000491336.1:n.283-27G>A | |
| ENST00000640102.1:c.*2G>A | ENSP00000492027.1:n.*2G>A | |
| ENST00000640747.1:c.*24G>A | ENSP00000492730.1:n.*24G>A | |
| ENST00000354202.8:c.349G>A | ENSP00000346142.4:p.Val117Ile | |
| ENST00000392834.7:c.*54G>A | ENSP00000376579.3:n.*54G>A | |
| ENST00000409993.6:c.349G>A | ENSP00000386597.2:p.Val117Ile | |
| ENST00000414373.5:c.*95G>A | ENSP00000402019.1:n.*95G>A | |
| ENST00000442480.1:c.199G>A | ENSP00000406591.1:p.Val67Ile | |
| ENST00000445653.5:n.435G>A | ||
| ENST00000460183.1:n.910G>A | ||
| ENST00000481084.5:n.1125+241G>A | ||
| ENST00000525456.5:n.352G>A | ||
| ENST00000530052.1:n.247G>A | ||
| ENST00000533687.1:n.140G>A | ||
| NM_001382.3:c.349G>A | NP_001373.2:p.Val117Ile | |
| XM_005271422.2:c.349G>A | XP_005271479.1:p.Val117Ile | |
| XM_011542648.1:c.28G>A | XP_011540950.1:p.Val10Ile | |
| XR_947801.1:n.785G>A | ||
| XM_005271422.3:c.349G>A | XP_005271479.1:p.Val117Ile | |
| XM_011542648.2:c.28G>A | XP_011540950.1:p.Val10Ile | |
| XM_017017293.2:c.28G>A | XP_016872782.1:p.Val10Ile | |
| XM_017017294.2:c.349G>A | XP_016872783.1:p.Val117Ile | |
| XM_017017295.1:c.-20-369G>A | XP_016872784.1:n.-20-369G>A | |
| XR_001747785.2:n.572G>A | ||
| XR_947801.2:n.572G>A | ||
| NM_001382.4:c.349G>A MANE Select | NP_001373.2:p.Val117Ile |