Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81356956C>T , CM000678.2:g.81356956C>T | GRCh38 |
| NC_000016.9:g.81390561C>T , CM000678.1:g.81390561C>T | GRCh37 |
| NC_000016.8:g.79948062C>T | NCBI36 |
| NG_009007.1:g.46991C>T , LRG_242:g.46991C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022041.4:c.805C>T MANE Select | NP_071324.1:p.Arg269Trp |
| ENST00000648994.2:c.805C>T MANE Select | ENSP00000497351.1:p.Arg269Trp |
| NM_001377486.1:c.166C>T | NP_001364415.1:p.Arg56Trp |
| NM_022041.3:c.805C>T , LRG_242t1:c.805C>T | NP_071324.1:p.Arg269Trp |
| ENST00000568107.2:c.805C>T | ENSP00000476795.1:p.Arg269Trp |
| ENST00000648349.2:c.*513C>T | ENSP00000498114.1:n.*513C>T |
| ENST00000650388.1:c.339C>T | ENSP00000498081.1:n.339C>T |
| XM_017023734.1:c.166C>T | XP_016879223.1:p.Arg56Trp |