Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97430432C>T , CM000672.2:g.97430432C>T | GRCh38 |
| NC_000010.10:g.99190189C>T , CM000672.1:g.99190189C>T | GRCh37 |
| NC_000010.9:g.99180179C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334828.6:c.193C>T MANE Select | ENSP00000359991.4:p.Arg65Trp | |
| ENST00000334828.5:c.193C>T | ENSP00000359991.4:p.Arg65Trp | |
| ENST00000467867.1:n.449C>T | ||
| NM_001317079.1:c.148C>T | NP_001304008.1:p.Arg50Trp | |
| NM_002629.2:c.193C>T | NP_002620.1:p.Arg65Trp | |
| NM_002629.3:c.193C>T | NP_002620.1:p.Arg65Trp | |
| NM_002629.4:c.193C>T MANE Select | NP_002620.1:p.Arg65Trp | |
| NM_001317079.2:c.148C>T | NP_001304008.1:p.Arg50Trp |