Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165017621C>T , CM000665.2:g.165017621C>T | GRCh38 |
| NC_000003.11:g.164735409C>T , CM000665.1:g.164735409C>T | GRCh37 |
| NC_000003.10:g.166218103C>T | NCBI36 |
| NG_017043.1:g.65875G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.3686G>A MANE Select | NP_001032.2:p.Cys1229Tyr |
| ENST00000264382.8:c.3686G>A MANE Select | ENSP00000264382.3:p.Cys1229Tyr |
| NM_001041.3:c.3686G>A | NP_001032.2:p.Cys1229Tyr |
| ENST00000264382.7:c.3686G>A | ENSP00000264382.3:p.Cys1229Tyr |
| XM_011513078.1:c.3587G>A | XP_011511380.1:p.Cys1196Tyr |
| XM_011513078.2:c.3587G>A | XP_011511380.1:p.Cys1196Tyr |