Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414111C>T , CM000665.2:g.119414111C>T | GRCh38 |
| NC_000003.11:g.119132958C>T , CM000665.1:g.119132958C>T | GRCh37 |
| NC_000003.10:g.120615648C>T | NCBI36 |
| NG_007665.2:g.124739C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020754.4:c.2182C>T MANE Select | NP_065805.2:p.Gln728Ter |
| ENST00000264245.9:c.2182C>T MANE Select | ENSP00000264245.4:p.Gln728Ter |
| NM_020754.3:c.2182C>T | NP_065805.2:p.Gln728Ter |
| ENST00000264245.8:c.2182C>T | ENSP00000264245.4:p.Gln728Ter |
| XM_005247671.3:c.2089C>T | XP_005247728.1:p.Gln697Ter |
| XM_006713714.2:c.2122C>T | XP_006713777.1:p.Gln708Ter |
| XM_006713714.3:c.2122C>T | XP_006713777.1:p.Gln708Ter |
| XM_017006955.1:c.1690C>T | XP_016862444.1:p.Gln564Ter |