Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633286T>C , CM000665.2:g.120633286T>C | GRCh38 |
| NC_000003.11:g.120352133T>C , CM000665.1:g.120352133T>C | GRCh37 |
| NC_000003.10:g.121834823T>C | NCBI36 |
| NG_011957.1:g.54196A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1049A>G MANE Select | NP_000178.2:p.Tyr350Cys |
| ENST00000283871.10:c.1049A>G MANE Select | ENSP00000283871.5:p.Tyr350Cys |
| NM_000187.3:c.1049A>G | NP_000178.2:p.Tyr350Cys |
| ENST00000283871.9:c.1049A>G | ENSP00000283871.5:p.Tyr350Cys |
| ENST00000470321.1:n.389A>G | |
| ENST00000492108.5:c.328A>G | ENSP00000419838.1:n.328A>G |
| XM_005247412.1:c.824A>G | XP_005247469.1:p.Tyr275Cys |
| XM_005247412.2:c.824A>G | XP_005247469.1:p.Tyr275Cys |
| XM_017006277.2:c.626A>G | XP_016861766.1:p.Tyr209Cys |