Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100670878G>A , CM000685.2:g.100670878G>A | GRCh38 |
| NC_000023.10:g.99925875G>A , CM000685.1:g.99925875G>A | GRCh37 |
| NC_000023.9:g.99812531G>A | NCBI36 |
| NG_021337.1:g.31713G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014467.3:c.1289G>A MANE Select | NP_055282.1:p.Arg430His |
| ENST00000373004.5:c.1289G>A MANE Select | ENSP00000362095.3:p.Arg430His |
| NM_014467.2:c.1289G>A | NP_055282.1:p.Arg430His |
| ENST00000373004.3:c.1289G>A | ENSP00000362095.3:p.Arg430His |
| ENST00000638920.1:n.1292G>A | |
| ENST00000640282.1:c.213G>A | ENSP00000491188.1:n.213G>A |
| XM_005262121.2:c.1289G>A | XP_005262178.1:p.Arg430His |