Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26628312A>G , CM000684.2:g.26628312A>G | GRCh38 |
| NC_000022.10:g.27024276A>G , CM000684.1:g.27024276A>G | GRCh37 |
| NC_000022.9:g.25354276A>G | NCBI36 |
| NG_009825.1:g.11349A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001886.3:c.325A>G MANE Select | NP_001877.1:p.Ile109Val |
| ENST00000354760.4:c.325A>G MANE Select | ENSP00000346805.3:p.Ile109Val |
| NM_001886.2:c.325A>G | NP_001877.1:p.Ile109Val |
| ENST00000354760.3:c.325A>G | ENSP00000346805.3:p.Ile109Val |
| ENST00000466315.1:n.222A>G | |
| XM_006724140.2:c.340A>G | XP_006724203.1:p.Ile114Val |
| XM_006724140.3:c.340A>G | XP_006724203.1:p.Ile114Val |
| XM_011529898.1:c.439A>G | XP_011528200.1:p.Ile147Val |
| XM_017028598.1:c.358A>G | XP_016884087.1:p.Ile120Val |