Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11689920G>T , CM000680.2:g.11689920G>T | GRCh38 |
| NC_000018.9:g.11689919G>T , CM000680.1:g.11689919G>T | GRCh37 |
| NC_000018.8:g.11679919G>T | NCBI36 |
| NG_033866.1:g.5906G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182978.4:c.357G>T MANE Select | NP_892023.1:p.Thr119= |
| ENST00000334049.11:c.357G>T MANE Select | ENSP00000334051.5:p.Thr119= |
| NM_182978.3:c.357G>T | NP_892023.1:p.Thr119= |
| ENST00000334049.10:c.357G>T | ENSP00000334051.5:p.Thr119= |
| ENST00000585590.1:n.231G>T | |
| XM_006722324.1:c.357G>T | XP_006722387.1:p.Thr119= |
| XM_006722324.3:c.357G>T | XP_006722387.1:p.Thr119= |