Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101273743C>T , CM000665.2:g.101273743C>T | GRCh38 |
| NC_000003.11:g.100992587C>T , CM000665.1:g.100992587C>T | GRCh37 |
| NC_000003.10:g.102475277C>T | NCBI36 |
| NG_028284.1:g.51833G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.667-1G>A MANE Select | NP_057331.2:n.667-1G>A |
| ENST00000193391.8:c.667-1G>A MANE Select | ENSP00000193391.6:n.667-1G>A |
| NM_016247.3:c.667-1G>A | NP_057331.2:n.667-1G>A |
| ENST00000193391.7:c.667-1G>A | ENSP00000193391.6:n.667-1G>A |
| XM_011512871.1:c.373-1G>A | XP_011511173.1:n.373-1G>A |
| XM_011512872.1:c.256-1G>A | XP_011511174.1:n.256-1G>A |