Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130384584A>G , CM000669.2:g.130384584A>G | GRCh38 |
| NC_000007.13:g.130024425A>G , CM000669.1:g.130024425A>G | GRCh37 |
| NC_000007.12:g.129811661A>G | NCBI36 |
| NG_042276.1:g.9214A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.745A>G MANE Select | NP_001859.1:p.Ile249Val |
| ENST00000011292.8:c.745A>G MANE Select | ENSP00000011292.3:p.Ile249Val |
| NM_001868.3:c.745A>G | NP_001859.1:p.Ile249Val |
| ENST00000011292.7:c.745A>G | ENSP00000011292.3:p.Ile249Val |
| ENST00000470838.1:n.145A>G | |
| ENST00000476062.5:c.481A>G | ENSP00000419408.1:p.Ile161Val |
| ENST00000479106.1:n.801A>G | |
| ENST00000484324.1:c.481A>G | ENSP00000419497.1:p.Ile161Val |
| ENST00000604896.5:c.301A>G | ENSP00000475021.1:p.Ile101Val |