Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.75682720C>T , CM000677.2:g.75682720C>T | GRCh38 |
| NC_000015.9:g.75975061C>T , CM000677.1:g.75975061C>T | GRCh37 |
| NC_000015.8:g.73762116C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308508.5:c.4670G>A MANE Select | ENSP00000312506.5:p.Arg1557His | |
| NM_001897.4:c.4670G>A | NP_001888.2:p.Arg1557His | |
| NM_001897.5:c.4670G>A MANE Select | NP_001888.2:p.Arg1557His |