Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73501829T>G , CM000666.2:g.73501829T>G | GRCh38 |
| NC_000004.11:g.74367546T>G , CM000666.1:g.74367546T>G | GRCh37 |
| NC_000004.10:g.74586410T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226355.5:c.1689T>G MANE Select | ENSP00000226355.3:p.Asp563Glu | |
| ENST00000226355.4:c.1689T>G | ENSP00000226355.3:p.Asp563Glu | |
| NM_001133.2:c.1689T>G MANE Select | NP_001124.1:p.Asp563Glu | |
| XM_017007842.2:c.*26T>G | XP_016863331.1:n.*26T>G |