Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001992C= , CM000663.2:g.94001992C= | GRCh38 |
| NC_000001.10:g.94467548C= , CM000663.1:g.94467548C= | GRCh37 |
| NC_000001.9:g.94240136C= | NCBI36 |
| NG_009073.1:g.124158G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.6148G= MANE Select | NP_000341.2:p.Val2050= |
| ENST00000370225.4:c.6148G= MANE Select | ENSP00000359245.3:p.Val2050= |
| NM_000350.2:c.6148G= | NP_000341.2:p.Val2050= |
| ENST00000370225.3:c.6148G= | ENSP00000359245.3:p.Val2050= |
| ENST00000465352.1:n.564G= | |
| ENST00000536513.5:c.2524G= | ENSP00000439707.2:p.Val842= |