Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120628449G>T , CM000665.2:g.120628449G>T | GRCh38 |
| NC_000003.11:g.120347296G>T , CM000665.1:g.120347296G>T | GRCh37 |
| NC_000003.10:g.121829986G>T | NCBI36 |
| NG_011957.1:g.59033C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000187.4:c.1269C>A MANE Select | NP_000178.2:p.Tyr423Ter |
| ENST00000283871.10:c.1269C>A MANE Select | ENSP00000283871.5:p.Tyr423Ter |
| NM_000187.3:c.1269C>A | NP_000178.2:p.Tyr423Ter |
| ENST00000283871.9:c.1269C>A | ENSP00000283871.5:p.Tyr423Ter |
| ENST00000492108.5:c.548C>A | ENSP00000419838.1:n.548C>A |
| XM_005247412.1:c.1044C>A | XP_005247469.1:p.Tyr348Ter |
| XM_005247412.2:c.1044C>A | XP_005247469.1:p.Tyr348Ter |
| XM_017006277.2:c.846C>A | XP_016861766.1:p.Tyr282Ter |