gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11183150T>A , CM000664.2:g.11183150T>A | GRCh38 |
| NC_000002.11:g.11323276T>A , CM000664.1:g.11323276T>A | GRCh37 |
| NC_000002.10:g.11240727T>A | NCBI36 |
| NG_029769.1:g.166436A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697752.1:c.*287A>T | ENSP00000513431.1:n.*287A>T | |
| ENST00000697790.1:c.3040A>T | ENSP00000513442.1:n.3040A>T | |
| ENST00000697791.1:n.4918A>T | ||
| ENST00000697792.1:n.5175A>T | ||
| ENST00000315872.11:c.*287A>T MANE Select | ENSP00000317985.6:n.*287A>T | |
| ENST00000315872.10:c.*287A>T | ENSP00000317985.6:n.*287A>T | |
| ENST00000616279.4:c.*287A>T | ENSP00000481789.1:n.*287A>T | |
| NM_004850.3:c.*287A>T | NP_004841.2:n.*287A>T | |
| XM_005246190.3:c.*304A>T | XP_005246247.1:n.*304A>T | |
| XM_011510417.1:c.*304A>T | XP_011508719.1:n.*304A>T | |
| NM_001321643.1:c.*287A>T | NP_001308572.1:n.*287A>T | |
| NM_004850.4:c.*287A>T | NP_004841.2:n.*287A>T | |
| XM_011510417.2:c.*304A>T | XP_011508719.1:n.*304A>T | |
| XM_017005379.2:c.*304A>T | XP_016860868.1:n.*304A>T | |
| NM_004850.5:c.*287A>T MANE Select | NP_004841.2:n.*287A>T | |
| NM_001321643.2:c.*287A>T | NP_001308572.1:n.*287A>T |