Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67930256G>A , CM000678.2:g.67930256G>A | GRCh38 |
| NC_000016.9:g.67964159G>A , CM000678.1:g.67964159G>A | GRCh37 |
| NC_000016.8:g.66521660G>A | NCBI36 |
| NG_051639.1:g.6620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574481.6:c.562C>T MANE Select | ENSP00000458537.2:p.Arg188Trp | |
| ENST00000571044.5:c.442-174C>T | ENSP00000461842.1:n.442-174C>T | |
| ENST00000571605.1:c.439C>T | ENSP00000458598.1:p.Arg147Trp | |
| ENST00000572144.5:n.1772C>T | ||
| ENST00000574481.5:c.562C>T | ENSP00000458537.2:p.Arg188Trp | |
| ENST00000575231.1:n.5043C>T | ||
| ENST00000576915.1:n.892C>T | ||
| NM_001907.2:c.562C>T | NP_001898.1:p.Arg188Trp | |
| NM_001907.3:c.562C>T MANE Select | NP_001898.1:p.Arg188Trp |