Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750296C>T , CM000677.2:g.74750296C>T | GRCh38 |
| NC_000015.9:g.75042637C>T , CM000677.1:g.75042637C>T | GRCh37 |
| NC_000015.8:g.72829690C>T | NCBI36 |
| NG_008431.1:g.32755C>T | |
| NG_008431.2:g.32755C>T | |
| NG_061543.1:g.6452C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000761.5:c.558C>T MANE Select | NP_000752.2:p.Phe186= |
| ENST00000343932.5:c.558C>T MANE Select | ENSP00000342007.4:p.Phe186= |
| NM_000761.4:c.558C>T | NP_000752.2:p.Phe186= |
| ENST00000343932.4:c.558C>T | ENSP00000342007.4:p.Phe186= |