Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93613029C>T , CM000672.2:g.93613029C>T | GRCh38 |
| NC_000010.10:g.95372786C>T , CM000672.1:g.95372786C>T | GRCh37 |
| NC_000010.9:g.95362776C>T | NCBI36 |
| NG_016752.1:g.5442C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006204.4:c.304C>T MANE Select | NP_006195.3:p.Arg102Trp |
| ENST00000371447.4:c.304C>T MANE Select | ENSP00000360502.3:p.Arg102Trp |
| NM_006204.3:c.304C>T | NP_006195.3:p.Arg102Trp |
| ENST00000371447.3:c.304C>T | ENSP00000360502.3:p.Arg102Trp |