Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99533477G>T , CM000672.2:g.99533477G>T | GRCh38 |
| NC_000010.10:g.101293234G>T , CM000672.1:g.101293234G>T | GRCh37 |
| NC_000010.9:g.101283224G>T | NCBI36 |
| NG_016854.1:g.5545G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145285.3:c.346G>T MANE Select | NP_660328.2:p.Asp116Tyr |
| ENST00000344586.9:c.346G>T MANE Select | ENSP00000342828.7:p.Asp116Tyr |
| NM_145285.2:c.346G>T | NP_660328.2:p.Asp116Tyr |
| ENST00000344586.8:c.346G>T | ENSP00000342828.7:p.Asp116Tyr |
| ENST00000622383.1:c.346G>T | ENSP00000479692.1:p.Asp116Tyr |
| XM_011539369.1:c.346G>T | XP_011537671.1:p.Asp116Tyr |
| XM_011539370.1:c.346G>T | XP_011537672.1:p.Asp116Tyr |