Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34753124C>T , CM000677.2:g.34753124C>T | GRCh38 |
| NC_000015.9:g.35045325C>T , CM000677.1:g.35045325C>T | GRCh37 |
| NC_000015.8:g.32832617C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020660.3:c.320G>A MANE Select | NP_065711.1:p.Arg107His |
| ENST00000290374.5:c.320G>A MANE Select | ENSP00000290374.4:p.Arg107His |
| NM_020660.2:c.320G>A | NP_065711.1:p.Arg107His |
| ENST00000290374.4:c.320G>A | ENSP00000290374.4:p.Arg107His |
| XM_017022438.1:c.167G>A | XP_016877927.1:p.Arg56His |