Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531146G>A , CM000680.2:g.31531146G>A | GRCh38 |
| NC_000018.9:g.29111109G>A , CM000680.1:g.29111109G>A | GRCh37 |
| NC_000018.8:g.27365107G>A | NCBI36 |
| NG_007072.3:g.37905G>A , LRG_397:g.37905G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.1174G>A MANE Select | NP_001934.2:p.Val392Ile |
| ENST00000261590.13:c.1174G>A MANE Select | ENSP00000261590.8:p.Val392Ile |
| NM_001943.3:c.1174G>A , LRG_397t1:c.1174G>A | NP_001934.2:p.Val392Ile |
| NM_001943.4:c.1174G>A | NP_001934.2:p.Val392Ile |
| ENST00000261590.12:c.1174G>A | ENSP00000261590.8:p.Val392Ile |
| ENST00000683614.1:c.1005G>A | |
| ENST00000683614.2:n.1005G>A | |
| XM_024451095.1:c.640G>A | XP_024306863.1:p.Val214Ile |