Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021385G= , CM000663.2:g.94021385G= | GRCh38 |
| NC_000001.10:g.94486941G= , CM000663.1:g.94486941G= | GRCh37 |
| NC_000001.9:g.94259529G= | NCBI36 |
| NG_009073.1:g.104765C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4873C= MANE Select | NP_000341.2:p.His1625= |
| ENST00000370225.4:c.4873C= MANE Select | ENSP00000359245.3:p.His1625= |
| NM_000350.2:c.4873C= | NP_000341.2:p.His1625= |
| ENST00000370225.3:c.4873C= | ENSP00000359245.3:p.His1625= |
| ENST00000460514.1:n.367C= | |
| ENST00000536513.5:c.1249C= | ENSP00000439707.2:p.His417= |