Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66230830C>T , CM000673.2:g.66230830C>T | GRCh38 |
| NC_000011.9:g.65998301C>T , CM000673.1:g.65998301C>T | GRCh37 |
| NC_000011.8:g.65754877C>T | NCBI36 |
| NG_033900.1:g.165478C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1516C>T MANE Select | NP_060496.2:p.Arg506Trp |
| ENST00000320580.9:c.1516C>T MANE Select | ENSP00000316454.4:p.Arg506Trp |
| NM_018026.3:c.1516C>T | NP_060496.2:p.Arg506Trp |
| ENST00000320580.8:c.1516C>T | ENSP00000316454.4:p.Arg506Trp |
| ENST00000529757.5:c.124C>T | ENSP00000432858.1:p.Arg42Trp |
| XM_011545162.1:c.1195C>T | XP_011543464.1:p.Arg399Trp |
| XM_011545163.1:c.1186C>T | XP_011543465.1:p.Arg396Trp |
| XM_011545164.1:c.1177C>T | XP_011543466.1:p.Arg393Trp |
| XM_011545164.2:c.1177C>T | XP_011543466.1:p.Arg393Trp |