Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413982A>G , CM000665.2:g.119413982A>G | GRCh38 |
| NC_000003.11:g.119132829A>G , CM000665.1:g.119132829A>G | GRCh37 |
| NC_000003.10:g.120615519A>G | NCBI36 |
| NG_007665.2:g.124610A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2053A>G MANE Select | ENSP00000264245.4:p.Ile685Val | |
| ENST00000264245.8:c.2053A>G | ENSP00000264245.4:p.Ile685Val | |
| NM_020754.3:c.2053A>G | NP_065805.2:p.Ile685Val | |
| XM_005247671.3:c.1960A>G | XP_005247728.1:p.Ile654Val | |
| XM_006713714.2:c.1993A>G | XP_006713777.1:p.Ile665Val | |
| XM_006713714.3:c.1993A>G | XP_006713777.1:p.Ile665Val | |
| XM_017006955.1:c.1561A>G | XP_016862444.1:p.Ile521Val | |
| NM_020754.4:c.2053A>G MANE Select | NP_065805.2:p.Ile685Val |