Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119941677C>A , CM000663.2:g.119941677C>A | GRCh38 |
| NC_000001.10:g.120484300C>A , CM000663.1:g.120484300C>A | GRCh37 |
| NC_000001.9:g.120285823C>A | NCBI36 |
| NG_008163.1:g.132977G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.2830G>T MANE Select | NP_077719.2:p.Asp944Tyr |
| ENST00000256646.7:c.2830G>T MANE Select | ENSP00000256646.2:p.Asp944Tyr |
| NM_001200001.1:c.2830G>T | NP_001186930.1:p.Asp944Tyr |
| NM_001200001.2:c.2830G>T | NP_001186930.1:p.Asp944Tyr |
| NM_024408.3:c.2830G>T | NP_077719.2:p.Asp944Tyr |
| ENST00000256646.6:c.2830G>T | ENSP00000256646.2:p.Asp944Tyr |
| XM_005270901.2:c.2713G>T | XP_005270958.1:p.Asp905Tyr |
| XM_011541519.1:c.2818G>T | XP_011539821.1:p.Asp940Tyr |
| XM_011541520.1:c.2713G>T | XP_011539822.1:p.Asp905Tyr |