Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61211193A>G , CM000673.2:g.61211193A>G | GRCh38 |
| NC_000011.9:g.60978665A>G , CM000673.1:g.60978665A>G | GRCh37 |
| NC_000011.8:g.60735241A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001079807.4:c.877A>G MANE Select | NP_001073275.1:p.Ile293Val |
| ENST00000325558.11:c.877A>G MANE Select | ENSP00000322192.6:p.Ile293Val |
| NM_001079807.2:c.877A>G | NP_001073275.1:p.Ile293Val |
| NM_001079807.3:c.877A>G | NP_001073275.1:p.Ile293Val |
| ENST00000325558.10:c.877A>G | ENSP00000322192.6:p.Ile293Val |
| ENST00000538258.1:c.97A>G | ENSP00000439846.1:p.Ile33Val |
| ENST00000541699.1:n.785A>G | |
| ENST00000543125.5:c.415A>G | ENSP00000440177.1:p.Ile139Val |
| ENST00000543505.5:c.658A>G | ENSP00000443732.1:p.Ile220Val |