Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229326945G>T , CM000663.2:g.229326945G>T | GRCh38 |
| NC_000001.10:g.229462692G>T , CM000663.1:g.229462692G>T | GRCh37 |
| NC_000001.9:g.227529315G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284617.7:c.429C>A MANE Select | ENSP00000284617.2:p.Asp143Glu | |
| ENST00000284617.6:c.429C>A | ENSP00000284617.2:p.Asp143Glu | |
| ENST00000366686.1:c.87C>A | ENSP00000355647.1:p.Asp29Glu | |
| ENST00000366687.5:c.429C>A | ENSP00000355648.1:p.Asp143Glu | |
| ENST00000483092.1:n.1412C>A | ||
| NM_145257.4:c.429C>A | NP_660300.3:p.Asp143Glu | |
| XM_011544056.1:c.87C>A | XP_011542358.1:p.Asp29Glu | |
| XR_001736958.2:n.1913C>A | ||
| NM_145257.5:c.429C>A MANE Select | NP_660300.3:p.Asp143Glu |