Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130383723A>G , CM000669.2:g.130383723A>G | GRCh38 |
| NC_000007.13:g.130023564A>G , CM000669.1:g.130023564A>G | GRCh37 |
| NC_000007.12:g.129810800A>G | NCBI36 |
| NG_042276.1:g.8353A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.625A>G MANE Select | NP_001859.1:p.Ile209Val |
| ENST00000011292.8:c.625A>G MANE Select | ENSP00000011292.3:p.Ile209Val |
| NM_001868.3:c.625A>G | NP_001859.1:p.Ile209Val |
| ENST00000011292.7:c.625A>G | ENSP00000011292.3:p.Ile209Val |
| ENST00000470838.1:n.25A>G | |
| ENST00000476062.5:c.361A>G | ENSP00000419408.1:p.Ile121Val |
| ENST00000484324.1:c.361A>G | ENSP00000419497.1:p.Ile121Val |
| ENST00000491460.5:n.587A>G | |
| ENST00000604896.5:c.181A>G | ENSP00000475021.1:p.Ile61Val |