Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6245284C>A , CM000663.2:g.6245284C>A | GRCh38 |
| NC_000001.10:g.6305344C>A , CM000663.1:g.6305344C>A | GRCh37 |
| NC_000001.9:g.6227931C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001024598.4:c.338C>A MANE Select | NP_001019769.1:p.Ala113Glu |
| ENST00000377898.4:c.338C>A MANE Select | ENSP00000367130.3:p.Ala113Glu |
| NM_001024598.3:c.338C>A | NP_001019769.1:p.Ala113Glu |
| ENST00000377898.3:c.338C>A | ENSP00000367130.3:p.Ala113Glu |
| ENST00000706530.1:c.404C>A | ENSP00000516434.1:p.Ala135Glu |
| XM_011541449.1:c.416C>A | XP_011539751.1:p.Ala139Glu |