Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352174C= , CM000679.2:g.44352174C= | GRCh38 |
| NC_000017.10:g.42429542C= , CM000679.1:g.42429542C= | GRCh37 |
| NC_000017.9:g.39785068C= | NCBI36 |
| NG_007886.1:g.12052C= , LRG_661:g.12052C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1339C= MANE Select | ENSP00000053867.2:p.His447= | |
| ENST00000639447.1:c.1137-355C= | ENSP00000492014.1:n.1137-355C= | |
| ENST00000053867.7:c.1339C= | ENSP00000053867.2:p.His447= | |
| ENST00000586443.1:c.780C= | ||
| ENST00000589265.5:c.868C= | ENSP00000467616.1:p.His290= | |
| NM_002087.3:c.1339C= | NP_002078.1:p.His447= | |
| XM_005257253.1:c.1339C= | XP_005257310.1:p.His447= | |
| XM_024450730.1:c.1339C= | XP_024306498.1:p.His447= | |
| NM_002087.4:c.1339C= MANE Select | NP_002078.1:p.His447= |