Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35258786C>A , CM000679.2:g.35258786C>A | GRCh38 |
| NC_000017.10:g.33585805C>A , CM000679.1:g.33585805C>A | GRCh37 |
| NC_000017.9:g.30609918C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144975.4:c.96C>A MANE Select | NP_659412.3:p.Asp32Glu |
| ENST00000299977.9:c.96C>A MANE Select | ENSP00000299977.3:p.Asp32Glu |
| NM_001330183.1:c.96C>A | NP_001317112.1:p.Asp32Glu |
| NM_001330183.2:c.96C>A | NP_001317112.1:p.Asp32Glu |
| NM_144975.3:c.96C>A | NP_659412.3:p.Asp32Glu |
| ENST00000299977.8:c.96C>A | ENSP00000299977.3:p.Asp32Glu |
| ENST00000542451.1:c.96C>A | ENSP00000440537.1:p.Asp32Glu |
| ENST00000592325.1:c.96C>A | ENSP00000466984.1:p.Asp32Glu |
| XM_005257934.2:c.96C>A | XP_005257991.1:p.Asp32Glu |