Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414011T= , CM000665.2:g.119414011T= | GRCh38 |
| NC_000003.11:g.119132858T= , CM000665.1:g.119132858T= | GRCh37 |
| NC_000003.10:g.120615548T= | NCBI36 |
| NG_007665.2:g.124639T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2082T= MANE Select | ENSP00000264245.4:p.Ile694= | |
| ENST00000264245.8:c.2082T= | ENSP00000264245.4:p.Ile694= | |
| NM_020754.3:c.2082T= | NP_065805.2:p.Ile694= | |
| XM_005247671.3:c.1989T= | XP_005247728.1:p.Ile663= | |
| XM_006713714.2:c.2022T= | XP_006713777.1:p.Ile674= | |
| XM_006713714.3:c.2022T= | XP_006713777.1:p.Ile674= | |
| XM_017006955.1:c.1590T= | XP_016862444.1:p.Ile530= | |
| NM_020754.4:c.2082T= MANE Select | NP_065805.2:p.Ile694= |