Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183116620A>G , CM000663.2:g.183116620A>G | GRCh38 |
| NC_000001.10:g.183085755A>G , CM000663.1:g.183085755A>G | GRCh37 |
| NC_000001.9:g.181352378A>G | NCBI36 |
| NG_011463.1:g.98161A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002293.4:c.1372A>G MANE Select | NP_002284.3:p.Ile458Val |
| ENST00000258341.5:c.1372A>G MANE Select | ENSP00000258341.3:p.Ile458Val |
| NM_002293.3:c.1372A>G | NP_002284.3:p.Ile458Val |
| ENST00000258341.4:c.1372A>G | ENSP00000258341.3:p.Ile458Val |
| ENST00000479499.1:n.425A>G |