Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28812462T>A , CM000663.2:g.28812462T>A | GRCh38 |
| NC_000001.10:g.29138974T>A , CM000663.1:g.29138974T>A | GRCh37 |
| NC_000001.9:g.29011561T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000911.4:c.79T>A MANE Select | NP_000902.3:p.Cys27Ser |
| ENST00000234961.7:c.79T>A MANE Select | ENSP00000234961.2:p.Cys27Ser |
| NM_000911.3:c.79T>A | NP_000902.3:p.Cys27Ser |
| ENST00000234961.6:c.79T>A | ENSP00000234961.2:p.Cys27Ser |
| ENST00000621425.1:c.79T>A | ENSP00000477970.1:p.Cys27Ser |