Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811810G>A , CM000677.2:g.71811810G>A | GRCh38 |
| NC_000015.9:g.72104150G>A , CM000677.1:g.72104150G>A | GRCh37 |
| NC_000015.8:g.69891204G>A | NCBI36 |
| NG_009113.2:g.6256G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.290G>A MANE Select | NP_055064.1:p.Arg97His |
| ENST00000617575.5:c.290G>A MANE Select | ENSP00000482504.1:p.Arg97His |
| NM_014249.3:c.290G>A | NP_055064.1:p.Arg97His |
| NM_016346.3:c.290G>A | NP_057430.1:p.Arg97His |
| NM_016346.4:c.290G>A | NP_057430.1:p.Arg97His |
| ENST00000617575.4:c.290G>A | ENSP00000482504.1:p.Arg97His |
| ENST00000621098.1:c.290G>A | ENSP00000479962.1:p.Arg97His |
| ENST00000621736.4:c.26G>A | ENSP00000479254.1:p.Arg9His |
| XM_011521146.1:c.26G>A | XP_011519448.1:p.Arg9His |