Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44750686G>A , CM000682.2:g.44750686G>A | GRCh38 |
| NC_000020.10:g.43379327G>A , CM000682.1:g.43379327G>A | GRCh37 |
| NC_000020.9:g.42812741G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022358.4:c.841G>A MANE Select | NP_071753.2:p.Ala281Thr |
| ENST00000372861.5:c.841G>A MANE Select | ENSP00000361952.3:p.Ala281Thr |
| NM_022358.3:c.841G>A | NP_071753.2:p.Ala281Thr |
| ENST00000372861.4:c.841G>A | ENSP00000361952.3:p.Ala281Thr |