Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232888G= , CM000667.2:g.173232888G= | GRCh38 |
| NC_000005.9:g.172659891G= , CM000667.1:g.172659891G= | GRCh37 |
| NC_000005.8:g.172592497G= | NCBI36 |
| NG_013340.1:g.7425C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004387.4:c.656C= MANE Select | NP_004378.1:p.Ala219= |
| ENST00000329198.5:c.656C= MANE Select | ENSP00000327758.4:p.Ala219= |
| NM_001166175.1:c.*609C= | NP_001159647.1:n.*609C= |
| NM_001166175.2:c.*609C= | NP_001159647.1:n.*609C= |
| NM_001166176.1:c.*455C= | NP_001159648.1:n.*455C= |
| NM_001166176.2:c.*455C= | NP_001159648.1:n.*455C= |
| NM_004387.3:c.656C= | NP_004378.1:p.Ala219= |
| ENST00000329198.4:c.656C= | ENSP00000327758.4:p.Ala219= |