Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530886C>T , CM000665.2:g.129530886C>T | GRCh38 |
| NC_000003.11:g.129249729C>T , CM000665.1:g.129249729C>T | GRCh37 |
| NC_000003.10:g.130732419C>T | NCBI36 |
| NG_009115.1:g.7248C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.372C>T MANE Select | ENSP00000296271.3:p.Ala124= | |
| ENST00000296271.3:c.372C>T | ENSP00000296271.3:p.Ala124= | |
| NM_000539.3:c.372C>T MANE Select | NP_000530.1:p.Ala124= |