Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112494264A>G , CM000664.2:g.112494264A>G | GRCh38 |
| NC_000002.11:g.113251841A>G , CM000664.1:g.113251841A>G | GRCh37 |
| NC_000002.10:g.112968312A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233336.7:c.358A>G MANE Select | ENSP00000233336.5:p.Ile120Val | |
| ENST00000233336.6:c.358A>G | ENSP00000233336.5:p.Ile120Val | |
| NM_153712.4:c.358A>G | NP_714923.1:p.Ile120Val | |
| XM_005263599.2:c.358A>G | XP_005263656.1:p.Ile120Val | |
| XM_011510665.1:c.358A>G | XP_011508967.1:p.Ile120Val | |
| XM_005263599.3:c.358A>G | XP_005263656.1:p.Ile120Val | |
| XM_011510665.2:c.358A>G | XP_011508967.1:p.Ile120Val | |
| NM_153712.5:c.358A>G MANE Select | NP_714923.1:p.Ile120Val | |
| NM_001371712.1:c.358A>G | NP_001358641.1:p.Ile120Val |