Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122488926G>A , CM000672.2:g.122488926G>A | GRCh38 |
| NC_000010.10:g.124248442G>A , CM000672.1:g.124248442G>A | GRCh37 |
| NC_000010.9:g.124238432G>A | NCBI36 |
| NG_011554.1:g.32402G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002775.5:c.497G>A MANE Select | NP_002766.1:p.Arg166His |
| ENST00000368984.8:c.497G>A MANE Select | ENSP00000357980.3:p.Arg166His |
| NM_002775.4:c.497G>A | NP_002766.1:p.Arg166His |
| ENST00000368984.7:c.497G>A | ENSP00000357980.3:p.Arg166His |
| ENST00000648167.1:c.179G>A | ENSP00000498033.1:p.Arg60His |