Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218812269T>A , CM000664.2:g.218812269T>A | GRCh38 |
| NC_000002.11:g.219676992T>A , CM000664.1:g.219676992T>A | GRCh37 |
| NC_000002.10:g.219385236T>A | NCBI36 |
| NG_007959.1:g.35521T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.494T>A MANE Select | NP_000775.1:p.Leu165Ter |
| ENST00000258415.9:c.494T>A MANE Select | ENSP00000258415.4:p.Leu165Ter |
| NM_000784.3:c.494T>A | NP_000775.1:p.Leu165Ter |
| ENST00000258415.8:c.494T>A | ENSP00000258415.4:p.Leu165Ter |
| ENST00000411688.1:c.212T>A | ENSP00000392671.1:p.Leu71Ter |
| ENST00000445971.1:c.303T>A | ENSP00000404945.1:p.Val101= |
| ENST00000466602.1:n.312T>A | |
| ENST00000494263.5:n.928T>A | |
| XM_017003488.2:c.74T>A | XP_016858977.1:p.Leu25Ter |