Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.152835839C>A , CM000665.2:g.152835839C>A | GRCh38 |
| NC_000003.11:g.152553628C>A , CM000665.1:g.152553628C>A | GRCh37 |
| NC_000003.10:g.154036318C>A | NCBI36 |
| NG_032896.2:g.5893C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002563.5:c.57C>A MANE Select | NP_002554.1:p.Ala19= |
| ENST00000305097.6:c.57C>A MANE Select | ENSP00000304767.3:p.Ala19= |
| NM_002563.3:c.57C>A | NP_002554.1:p.Ala19= |
| NM_002563.4:c.57C>A | NP_002554.1:p.Ala19= |
| ENST00000305097.5:c.57C>A | ENSP00000304767.3:p.Ala19= |