Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90360567C>T , CM000677.2:g.90360567C>T | GRCh38 |
| NC_000015.9:g.90903799C>T , CM000677.1:g.90903799C>T | GRCh37 |
| NC_000015.8:g.88704803C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004309.3:c.736C>T MANE Select | NP_001004309.2:p.Arg246Trp |
| ENST00000354377.8:c.736C>T MANE Select | ENSP00000346348.3:p.Arg246Trp |
| NM_001004309.2:c.736C>T | NP_001004309.2:p.Arg246Trp |
| ENST00000354377.7:c.736C>T | ENSP00000346348.3:p.Arg246Trp |
| ENST00000379090.9:c.211+1610C>T | ENSP00000368383.5:n.211+1610C>T |
| XM_017022127.1:c.283C>T | XP_016877616.1:p.Arg95Trp |
| XM_017022128.2:c.283C>T | XP_016877617.1:p.Arg95Trp |
| XM_017022129.1:c.283C>T | XP_016877618.1:p.Arg95Trp |
| XR_001751249.2:n.1735C>T |