Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337539C>A , CM000673.2:g.47337539C>A | GRCh38 |
| NC_000011.9:g.47359090C>A , CM000673.1:g.47359090C>A | GRCh37 |
| NC_000011.8:g.47315666C>A | NCBI36 |
| NG_007667.1:g.20164G>T , LRG_386:g.20164G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000256.3:c.2454G>T , LRG_386t1:c.2454G>T MANE Select | NP_000247.2:p.Trp818Cys |
| ENST00000545968.6:c.2454G>T MANE Select | ENSP00000442795.1:p.Trp818Cys |
| ENST00000256993.8:c.2454G>T | ENSP00000256993.5:p.Trp818Cys |
| ENST00000399249.6:c.2454G>T | ENSP00000382193.2:p.Trp818Cys |
| ENST00000544791.1:c.2414-28G>T | ENSP00000444259.1:n.2414-28G>T |
| ENST00000545968.5:c.2454G>T | ENSP00000442795.1:p.Trp818Cys |
| XM_011520117.1:c.2436G>T | XP_011518419.1:p.Trp812Cys |
| XM_011520118.1:c.2373G>T | XP_011518420.1:p.Trp791Cys |