Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232587A>C , CM000667.2:g.173232587A>C | GRCh38 |
| NC_000005.9:g.172659590A>C , CM000667.1:g.172659590A>C | GRCh37 |
| NC_000005.8:g.172592196A>C | NCBI36 |
| NG_013340.1:g.7726T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004387.4:c.957T>G MANE Select | NP_004378.1:p.His319Gln |
| ENST00000329198.5:c.957T>G MANE Select | ENSP00000327758.4:p.His319Gln |
| NM_001166175.1:c.*910T>G | NP_001159647.1:n.*910T>G |
| NM_001166175.2:c.*910T>G | NP_001159647.1:n.*910T>G |
| NM_001166176.1:c.*756T>G | NP_001159648.1:n.*756T>G |
| NM_001166176.2:c.*756T>G | NP_001159648.1:n.*756T>G |
| NM_004387.3:c.957T>G | NP_004378.1:p.His319Gln |
| ENST00000329198.4:c.957T>G | ENSP00000327758.4:p.His319Gln |