Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3156049G>T , CM000668.2:g.3156049G>T | GRCh38 |
| NC_000006.11:g.3156283G>T , CM000668.1:g.3156283G>T | GRCh37 |
| NC_000006.10:g.3101282G>T | NCBI36 |
| NG_042223.1:g.6501C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.161C>A MANE Select | ENSP00000369703.2:p.Ala54Asp | |
| ENST00000679400.1:n.217C>A | ||
| ENST00000679907.1:n.241C>A | ||
| ENST00000680036.1:n.242C>A | ||
| ENST00000680967.1:n.242C>A | ||
| ENST00000333628.3:c.161C>A | ENSP00000369703.2:p.Ala54Asp | |
| ENST00000489942.1:n.224C>A | ||
| NM_001069.2:c.161C>A | NP_001060.1:p.Ala54Asp | |
| NM_001310315.1:c.-227C>A | NP_001297244.1:n.-227C>A | |
| NM_001069.3:c.161C>A MANE Select | NP_001060.1:p.Ala54Asp | |
| NM_001310315.2:c.-227C>A | NP_001297244.1:n.-227C>A |