Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539805G>A , CM000663.2:g.100539805G>A | GRCh38 |
| NC_000001.10:g.101005361G>A , CM000663.1:g.101005361G>A | GRCh37 |
| NC_000001.9:g.100777949G>A | NCBI36 |
| NG_053134.1:g.6634G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.839G>A MANE Select | ENSP00000314223.4:p.Arg280His | |
| ENST00000315033.4:c.839G>A | ENSP00000314223.4:p.Arg280His | |
| NM_022049.2:c.839G>A | NP_071332.2:p.Arg280His | |
| NM_022049.3:c.839G>A MANE Select | NP_071332.2:p.Arg280His |