Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20653754T>C , CM000663.2:g.20653754T>C | GRCh38 |
| NC_000001.10:g.20980247T>C , CM000663.1:g.20980247T>C | GRCh37 |
| NC_000001.9:g.20852834T>C | NCBI36 |
| NG_032064.1:g.12791A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000602624.7:c.815A>G MANE Select | ENSP00000473655.2:p.Tyr272Cys | |
| ENST00000375048.7:c.866A>G | ENSP00000364188.3:p.Tyr289Cys | |
| ENST00000415136.6:c.866A>G | ENSP00000399457.3:p.Tyr289Cys | |
| ENST00000602624.6:c.815A>G | ENSP00000473655.1:p.Tyr272Cys | |
| NM_005216.4:c.866A>G | NP_005207.2:p.Tyr289Cys | |
| NM_005216.5:c.815A>G MANE Select | NP_005207.3:p.Tyr272Cys |