Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.152836568A>T , CM000665.2:g.152836568A>T | GRCh38 |
| NC_000003.11:g.152554357A>T , CM000665.1:g.152554357A>T | GRCh37 |
| NC_000003.10:g.154037047A>T | NCBI36 |
| NG_032896.2:g.6622A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002563.5:c.786A>T MANE Select | NP_002554.1:p.Val262= |
| ENST00000305097.6:c.786A>T MANE Select | ENSP00000304767.3:p.Val262= |
| NM_002563.3:c.786A>T | NP_002554.1:p.Val262= |
| NM_002563.4:c.786A>T | NP_002554.1:p.Val262= |
| ENST00000305097.5:c.786A>T | ENSP00000304767.3:p.Val262= |