Linked Data
ClinVar Variation Id:
302750
dbSNP Id:
rs746355462
ExAC:
11:118971562 G / A
gnomAD v2:
11-118971562-G-A
gnomAD v3:
11-119100852-G-A
gnomAD v4:
11-119100852-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100852G>A , CM000673.2:g.119100852G>A | GRCh38 |
| NC_000011.9:g.118971562G>A , CM000673.1:g.118971562G>A | GRCh37 |
| NC_000011.8:g.118476772G>A | NCBI36 |
| NG_008918.1:g.6224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.459-9C>T | ||
| ENST00000530052.2:n.1016C>T | ||
| ENST00000682191.1:n.485-9C>T | ||
| ENST00000682192.1:n.485-9C>T | ||
| ENST00000682232.1:c.162-9C>T | ENSP00000507302.1:n.162-9C>T | |
| ENST00000682326.1:c.283-9C>T | ENSP00000508129.1:n.283-9C>T | |
| ENST00000682404.1:n.1016C>T | ||
| ENST00000682517.1:n.1016C>T | ||
| ENST00000682652.1:n.1245C>T | ||
| ENST00000682665.1:n.671C>T | ||
| ENST00000682691.1:n.671C>T | ||
| ENST00000682791.1:c.187C>T | ENSP00000507312.1:p.Leu63Phe | |
| ENST00000682811.1:c.283-9C>T | ENSP00000508196.1:n.283-9C>T | |
| ENST00000682883.1:n.577C>T | ||
| ENST00000682946.1:c.283-9C>T | ENSP00000506856.1:n.283-9C>T | |
| ENST00000683143.1:c.192-9C>T | ENSP00000507168.1:n.192-9C>T | |
| ENST00000683373.1:n.485-9C>T | ||
| ENST00000683558.1:n.485-9C>T | ||
| ENST00000683567.1:n.510-9C>T | ||
| ENST00000683955.1:n.671C>T | ||
| ENST00000684142.1:c.283-25C>T | ENSP00000508008.1:n.283-25C>T | |
| ENST00000684252.1:n.671C>T | ||
| ENST00000684255.1:c.162-9C>T | ENSP00000507398.1:n.162-9C>T | |
| ENST00000684315.1:n.1007C>T | ||
| ENST00000684345.1:c.283-25C>T | ENSP00000507163.1:n.283-25C>T | |
| ENST00000684499.1:c.*379C>T | ENSP00000506800.1:n.*379C>T | |
| ENST00000684682.1:c.162-444C>T | ENSP00000507326.1:n.162-444C>T | |
| ENST00000354202.9:c.283-9C>T MANE Select | ENSP00000346142.4:n.283-9C>T | |
| ENST00000639704.1:c.283-102C>T | ENSP00000491336.1:n.283-102C>T | |
| ENST00000640102.1:c.162-25C>T | ENSP00000492027.1:n.162-25C>T | |
| ENST00000640747.1:c.283-25C>T | ENSP00000492730.1:n.283-25C>T | |
| ENST00000354202.8:c.283-9C>T | ENSP00000346142.4:n.283-9C>T | |
| ENST00000392834.7:c.162-9C>T | ENSP00000376579.3:n.162-9C>T | |
| ENST00000409993.6:c.283-9C>T | ENSP00000386597.2:n.283-9C>T | |
| ENST00000414373.5:c.*20C>T | ENSP00000402019.1:n.*20C>T | |
| ENST00000442480.1:c.133-9C>T | ENSP00000406591.1:n.133-9C>T | |
| ENST00000445653.5:n.369-9C>T | ||
| ENST00000460183.1:n.844-9C>T | ||
| ENST00000481084.5:n.1125+166C>T | ||
| ENST00000525456.5:n.277C>T | ||
| ENST00000530052.1:n.172C>T | ||
| ENST00000533687.1:n.65C>T | ||
| NM_001382.3:c.283-9C>T | NP_001373.2:n.283-9C>T | |
| XM_005271422.2:c.283-9C>T | XP_005271479.1:n.283-9C>T | |
| XM_011542648.1:c.-39-9C>T | XP_011540950.1:n.-39-9C>T | |
| XR_947801.1:n.719-9C>T | ||
| XM_005271422.3:c.283-9C>T | XP_005271479.1:n.283-9C>T | |
| XM_011542648.2:c.-39-9C>T | XP_011540950.1:n.-39-9C>T | |
| XM_017017293.2:c.-39-9C>T | XP_016872782.1:n.-39-9C>T | |
| XM_017017294.2:c.283-9C>T | XP_016872783.1:n.283-9C>T | |
| XM_017017295.1:c.-20-444C>T | XP_016872784.1:n.-20-444C>T | |
| XR_001747785.2:n.506-9C>T | ||
| XR_947801.2:n.506-9C>T | ||
| NM_001382.4:c.283-9C>T MANE Select | NP_001373.2:n.283-9C>T |