Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94029515C= , CM000663.2:g.94029515C= | GRCh38 |
| NC_000001.10:g.94495071C= , CM000663.1:g.94495071C= | GRCh37 |
| NC_000001.9:g.94267659C= | NCBI36 |
| NG_009073.1:g.96635G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4469G= MANE Select | NP_000341.2:p.Cys1490= |
| ENST00000370225.4:c.4469G= MANE Select | ENSP00000359245.3:p.Cys1490= |
| NM_000350.2:c.4469G= | NP_000341.2:p.Cys1490= |
| ENST00000370225.3:c.4469G= | ENSP00000359245.3:p.Cys1490= |
| ENST00000536513.5:c.845G= | ENSP00000439707.2:p.Cys282= |