Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232888G>A , CM000667.2:g.173232888G>A | GRCh38 |
| NC_000005.9:g.172659891G>A , CM000667.1:g.172659891G>A | GRCh37 |
| NC_000005.8:g.172592497G>A | NCBI36 |
| NG_013340.1:g.7425C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004387.4:c.656C>T MANE Select | NP_004378.1:p.Ala219Val |
| ENST00000329198.5:c.656C>T MANE Select | ENSP00000327758.4:p.Ala219Val |
| NM_001166175.1:c.*609C>T | NP_001159647.1:n.*609C>T |
| NM_001166175.2:c.*609C>T | NP_001159647.1:n.*609C>T |
| NM_001166176.1:c.*455C>T | NP_001159648.1:n.*455C>T |
| NM_001166176.2:c.*455C>T | NP_001159648.1:n.*455C>T |
| NM_004387.3:c.656C>T | NP_004378.1:p.Ala219Val |
| ENST00000329198.4:c.656C>T | ENSP00000327758.4:p.Ala219Val |