Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014074A>G , CM000663.2:g.1014074A>G | GRCh38 |
| NC_000001.10:g.949454A>G , CM000663.1:g.949454A>G | GRCh37 |
| NC_000001.9:g.939317A>G | NCBI36 |
| NG_033033.1:g.5608A>G | |
| NG_033033.2:g.17937A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.70A>G | ENSP00000485643.1:p.Ile24Val | |
| ENST00000649529.1:c.94A>G MANE Select | ENSP00000496832.1:p.Ile32Val | |
| ENST00000379389.4:c.94A>G | ENSP00000368699.4:p.Ile32Val | |
| ENST00000624652.1:c.70A>G | ENSP00000485313.1:p.Ile24Val | |
| ENST00000624697.3:c.70A>G | ENSP00000485643.1:p.Ile24Val | |
| NM_005101.3:c.94A>G | NP_005092.1:p.Ile32Val | |
| NM_005101.4:c.94A>G MANE Select | NP_005092.1:p.Ile32Val |