Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15442464G>A , CM000663.2:g.15442464G>A | GRCh38 |
| NC_000001.10:g.15768960G>A , CM000663.1:g.15768960G>A | GRCh37 |
| NC_000001.9:g.15641547G>A | NCBI36 |
| NG_009253.1:g.9023G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007272.3:c.248G>A MANE Select | NP_009203.2:p.Arg83His |
| ENST00000375949.5:c.248G>A MANE Select | ENSP00000365116.4:p.Arg83His |
| NM_007272.2:c.248G>A | NP_009203.2:p.Arg83His |
| ENST00000375943.6:c.58G>A | ENSP00000365110.2:p.Val20Met |
| ENST00000375949.4:c.248G>A | ENSP00000365116.4:p.Arg83His |
| ENST00000476813.5:n.70G>A | |
| ENST00000483406.1:n.158G>A | |
| XM_011540550.1:c.248G>A | XP_011538852.1:p.Arg83His |