Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17280704C>T , CM000663.2:g.17280704C>T | GRCh38 |
| NC_000001.10:g.17607199C>T , CM000663.1:g.17607199C>T | GRCh37 |
| NC_000001.9:g.17479786C>T | NCBI36 |
| NG_052788.1:g.36626C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016233.2:c.1669C>T MANE Select | NP_057317.2:p.Arg557Trp |
| ENST00000375460.3:c.1669C>T MANE Select | ENSP00000364609.3:p.Arg557Trp |
| XM_006710684.2:c.1555C>T | XP_006710747.1:p.Arg519Trp |
| XM_011541571.1:c.1555C>T | XP_011539873.1:p.Arg519Trp |
| XM_011541571.2:c.1555C>T | XP_011539873.1:p.Arg519Trp |
| XM_017001463.1:c.1132C>T | XP_016856952.1:p.Arg378Trp |