Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024233G>A , CM000682.2:g.59024233G>A | GRCh38 |
| NC_000020.10:g.57599288G>A , CM000682.1:g.57599288G>A | GRCh37 |
| NC_000020.9:g.57032683G>A | NCBI36 |
| NG_023424.2:g.9980G>A , LRG_581:g.9980G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030773.4:c.806G>A MANE Select | NP_110400.1:p.Gly269Asp |
| ENST00000217133.2:c.806G>A MANE Select | ENSP00000217133.1:p.Gly269Asp |
| NM_030773.3:c.806G>A , LRG_581t1:c.806G>A | NP_110400.1:p.Gly269Asp |
| ENST00000217133.1:c.806G>A | ENSP00000217133.1:p.Gly269Asp |
| XM_017028085.1:c.740G>A | XP_016883574.1:p.Gly247Asp |