Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68684951G>A , CM000673.2:g.68684951G>A | GRCh38 |
| NC_000011.9:g.68452419G>A , CM000673.1:g.68452419G>A | GRCh37 |
| NC_000011.8:g.68208995G>A | NCBI36 |
| NG_052785.1:g.5477G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015973.5:c.28G>A MANE Select | NP_057057.2:p.Ala10Thr |
| ENST00000265643.4:c.28G>A MANE Select | ENSP00000265643.3:p.Ala10Thr |
| NM_015973.3:c.28G>A | NP_057057.2:p.Ala10Thr |
| NM_015973.4:c.28G>A | NP_057057.2:p.Ala10Thr |
| ENST00000265643.3:c.28G>A | ENSP00000265643.3:p.Ala10Thr |
| XR_001748281.1:n.230+2890C>T |