Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337539C= , CM000673.2:g.47337539C= | GRCh38 |
| NC_000011.9:g.47359090C= , CM000673.1:g.47359090C= | GRCh37 |
| NC_000011.8:g.47315666C= | NCBI36 |
| NG_007667.1:g.20164G= , LRG_386:g.20164G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000256.3:c.2454G= , LRG_386t1:c.2454G= MANE Select | NP_000247.2:p.Trp818= |
| ENST00000545968.6:c.2454G= MANE Select | ENSP00000442795.1:p.Trp818= |
| ENST00000256993.8:c.2454G= | ENSP00000256993.5:p.Trp818= |
| ENST00000399249.6:c.2454G= | ENSP00000382193.2:p.Trp818= |
| ENST00000544791.1:c.2414-28G= | ENSP00000444259.1:n.2414-28G= |
| ENST00000545968.5:c.2454G= | ENSP00000442795.1:p.Trp818= |
| XM_011520117.1:c.2436G= | XP_011518419.1:p.Trp812= |
| XM_011520118.1:c.2373G= | XP_011518420.1:p.Trp791= |