Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15442572G>A , CM000663.2:g.15442572G>A | GRCh38 |
| NC_000001.10:g.15769068G>A , CM000663.1:g.15769068G>A | GRCh37 |
| NC_000001.9:g.15641655G>A | NCBI36 |
| NG_009253.1:g.9131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.356G>A MANE Select | ENSP00000365116.4:p.Arg119His | |
| ENST00000375943.6:c.166G>A | ENSP00000365110.2:p.Ala56Thr | |
| ENST00000375949.4:c.356G>A | ENSP00000365116.4:p.Arg119His | |
| ENST00000476813.5:n.178G>A | ||
| ENST00000483406.1:n.266G>A | ||
| NM_007272.2:c.356G>A | NP_009203.2:p.Arg119His | |
| XM_011540550.1:c.356G>A | XP_011538852.1:p.Arg119His | |
| NM_007272.3:c.356G>A MANE Select | NP_009203.2:p.Arg119His |