Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167055088C>T , CM000663.2:g.167055088C>T | GRCh38 |
| NC_000001.10:g.167024325C>T , CM000663.1:g.167024325C>T | GRCh37 |
| NC_000001.9:g.165290949C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367868.4:c.715G>A MANE Select | ENSP00000356842.3:p.Val239Met | |
| ENST00000367868.3:c.715G>A | ENSP00000356842.3:p.Val239Met | |
| ENST00000527955.5:n.806G>A | ||
| NM_005814.2:c.715G>A | NP_005805.1:p.Val239Met | |
| XR_922247.1:n.1634+2322C>T | ||
| XR_922248.1:n.1634+2322C>T | ||
| XR_922249.1:n.1634+2322C>T | ||
| XM_017000005.1:c.391G>A | XP_016855494.1:p.Val131Met | |
| XR_922247.2:n.1640+2322C>T | ||
| XR_922248.2:n.1640+2322C>T | ||
| XR_922249.2:n.1640+2322C>T | ||
| NM_005814.3:c.715G>A MANE Select | NP_005805.1:p.Val239Met |