Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232801T>C , CM000667.2:g.173232801T>C | GRCh38 |
| NC_000005.9:g.172659804T>C , CM000667.1:g.172659804T>C | GRCh37 |
| NC_000005.8:g.172592410T>C | NCBI36 |
| NG_013340.1:g.7512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.743A>G MANE Select | ENSP00000327758.4:p.Tyr248Cys | |
| ENST00000329198.4:c.743A>G | ENSP00000327758.4:p.Tyr248Cys | |
| NM_001166175.1:c.*696A>G | NP_001159647.1:n.*696A>G | |
| NM_001166176.1:c.*542A>G | NP_001159648.1:n.*542A>G | |
| NM_004387.3:c.743A>G | NP_004378.1:p.Tyr248Cys | |
| NM_004387.4:c.743A>G MANE Select | NP_004378.1:p.Tyr248Cys | |
| NM_001166175.2:c.*696A>G | NP_001159647.1:n.*696A>G | |
| NM_001166176.2:c.*542A>G | NP_001159648.1:n.*542A>G |