Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109717648A>C , CM000666.2:g.109717648A>C | GRCh38 |
| NC_000004.11:g.110638804A>C , CM000666.1:g.110638804A>C | GRCh37 |
| NC_000004.10:g.110858253A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243501.10:c.351T>G MANE Select | ENSP00000243501.5:p.Cys117Trp | |
| ENST00000645635.1:c.1677T>G | ENSP00000493607.1:p.Cys559Trp | |
| ENST00000243501.9:c.351T>G | ENSP00000243501.5:p.Cys117Trp | |
| ENST00000502283.1:c.345T>G | ENSP00000425274.1:p.Cys115Trp | |
| ENST00000502772.1:n.145T>G | ||
| ENST00000507961.1:c.*61T>G | ENSP00000424021.1:n.*61T>G | |
| NM_030821.4:c.351T>G | NP_110448.2:p.Cys117Trp | |
| NM_030821.5:c.351T>G MANE Select | NP_110448.2:p.Cys117Trp |