Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186048726C>T , CM000665.2:g.186048726C>T | GRCh38 |
| NC_000003.11:g.185766515C>T , CM000665.1:g.185766515C>T | GRCh37 |
| NC_000003.10:g.187249209C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004454.3:c.1446G>A MANE Select | NP_004445.1:p.Pro482= |
| ENST00000306376.10:c.1446G>A MANE Select | ENSP00000306894.5:p.Pro482= |
| NM_004454.2:c.1446G>A | NP_004445.1:p.Pro482= |
| ENST00000306376.9:c.1446G>A | ENSP00000306894.5:p.Pro482= |
| ENST00000434744.5:c.1446G>A | ENSP00000413755.1:p.Pro482= |
| ENST00000480706.1:n.620G>A |