Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.93020239C>T , CM000677.2:g.93020239C>T | GRCh38 |
| NC_000015.9:g.93563469C>T , CM000677.1:g.93563469C>T | GRCh37 |
| NC_000015.8:g.91364473C>T | NCBI36 |
| NG_012826.1:g.124919C>T | |
| NG_012826.2:g.124919C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001271.4:c.5134C>T MANE Select | NP_001262.3:p.His1712Tyr |
| ENST00000394196.9:c.5134C>T MANE Select | ENSP00000377747.4:p.His1712Tyr |
| NM_001271.3:c.5134C>T | NP_001262.3:p.His1712Tyr |
| ENST00000394196.8:c.5134C>T | ENSP00000377747.4:p.His1712Tyr |
| ENST00000625662.2:c.1537C>T | |
| ENST00000625662.3:c.4754C>T | |
| ENST00000626874.2:c.5134C>T | ENSP00000486629.1:p.His1712Tyr |
| ENST00000627460.1:c.370C>T |