Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951869C>A , CM000670.2:g.19951869C>A | GRCh38 |
| NC_000008.10:g.19809380C>A , CM000670.1:g.19809380C>A | GRCh37 |
| NC_000008.9:g.19853660C>A | NCBI36 |
| NG_008855.1:g.17799C>A | |
| NG_008855.2:g.55153C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.350C>A MANE Select | ENSP00000497642.1:p.Ala117Asp | |
| ENST00000311322.8:c.350C>A | ENSP00000309757.6:p.Ala117Asp | |
| ENST00000520959.5:c.122C>A | ENSP00000428496.1:p.Ala41Asp | |
| ENST00000524029.5:c.350C>A | ENSP00000428237.1:p.Ala117Asp | |
| NM_000237.2:c.350C>A | NP_000228.1:p.Ala117Asp | |
| NM_000237.3:c.350C>A MANE Select | NP_000228.1:p.Ala117Asp |