Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34752933C>T , CM000677.2:g.34752933C>T | GRCh38 |
| NC_000015.9:g.35045134C>T , CM000677.1:g.35045134C>T | GRCh37 |
| NC_000015.8:g.32832426C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020660.3:c.511G>A MANE Select | NP_065711.1:p.Val171Ile |
| ENST00000290374.5:c.511G>A MANE Select | ENSP00000290374.4:p.Val171Ile |
| NM_020660.2:c.511G>A | NP_065711.1:p.Val171Ile |
| ENST00000290374.4:c.511G>A | ENSP00000290374.4:p.Val171Ile |
| XM_017022438.1:c.358G>A | XP_016877927.1:p.Val120Ile |