Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247896194C>T , CM000663.2:g.247896194C>T | GRCh38 |
| NC_000001.10:g.248059496C>T , CM000663.1:g.248059496C>T | GRCh37 |
| NC_000001.9:g.246126119C>T | NCBI36 |
| NG_053132.1:g.5608C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001957.2:c.608C>T MANE Select | NP_001001957.2:p.Ala203Val |
| ENST00000360358.3:c.608C>T MANE Select | ENSP00000353516.3:p.Ala203Val |