Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420609A= , CM000666.2:g.99420609A= | GRCh38 |
| NC_000004.11:g.100341766A= , CM000666.1:g.100341766A= | GRCh37 |
| NC_000004.10:g.100560789A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.749T= MANE Select | ENSP00000414254.2:p.Ile250= | |
| ENST00000209665.8:c.785T= | ENSP00000209665.4:p.Ile262= | |
| ENST00000437033.6:c.749T= | ENSP00000414254.2:p.Ile250= | |
| ENST00000476959.5:c.809T= | ENSP00000420269.1:p.Ile270= | |
| ENST00000482593.5:c.578T= | ENSP00000420613.1:p.Ile193= | |
| NM_000673.4:c.785T= | NP_000664.2:p.Ile262= | |
| NM_001166504.1:c.809T= | NP_001159976.1:p.Ile270= | |
| NM_000673.7:c.749T= MANE Select | NP_000664.3:p.Ile250= | |
| NM_001166504.2:c.809T= | NP_001159976.1:p.Ile270= |