Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47339670C= , CM000673.2:g.47339670C= | GRCh38 |
| NC_000011.9:g.47361221C= , CM000673.1:g.47361221C= | GRCh37 |
| NC_000011.8:g.47317797C= | NCBI36 |
| NG_007667.1:g.18033G= , LRG_386:g.18033G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2048G= MANE Select | ENSP00000442795.1:p.Trp683= | |
| ENST00000256993.8:c.2048G= | ENSP00000256993.5:p.Trp683= | |
| ENST00000399249.6:c.2048G= | ENSP00000382193.2:p.Trp683= | |
| ENST00000544791.1:c.2048G= | ENSP00000444259.1:p.Trp683= | |
| ENST00000545968.5:c.2048G= | ENSP00000442795.1:p.Trp683= | |
| NM_000256.3:c.2048G= , LRG_386t1:c.2048G= MANE Select | NP_000247.2:p.Trp683= | |
| XM_011520117.1:c.2030G= | XP_011518419.1:p.Trp677= | |
| XM_011520118.1:c.2048G= | XP_011518420.1:p.Trp683= |