Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560624C>A , CM000673.2:g.66560624C>A | GRCh38 |
| NG_013304.2:g.18705C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001104.4:c.1729C>A MANE Select | NP_001095.2:p.Arg577= |
| ENST00000513398.2:c.1729C>A MANE Select | ENSP00000426797.1:p.Arg577= |
| NM_001104.3:c.1729C>A | NP_001095.2:p.Arg577= |
| NM_001258371.2:c.1858C>A | NP_001245300.2:p.Arg620= |
| NM_001258371.3:c.1858C>A | NP_001245300.2:p.Arg620= |
| ENST00000502692.5:c.1858C>A | ENSP00000422007.1:p.Arg620= |
| ENST00000513398.1:c.1729C>A | ENSP00000426797.1:p.Arg577= |