Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15873124G>A , CM000663.2:g.15873124G>A | GRCh38 |
| NC_000001.10:g.16199619G>A , CM000663.1:g.16199619G>A | GRCh37 |
| NC_000001.9:g.16072206G>A | NCBI36 |
| NG_050663.1:g.30261G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015001.3:c.392G>A MANE Select | NP_055816.2:p.Arg131Gln |
| ENST00000375759.8:c.392G>A MANE Select | ENSP00000364912.3:p.Arg131Gln |
| NM_015001.2:c.392G>A | NP_055816.2:p.Arg131Gln |
| ENST00000375759.7:c.392G>A | ENSP00000364912.3:p.Arg131Gln |
| ENST00000438066.2:c.392G>A | ENSP00000388021.2:p.Arg131Gln |
| ENST00000673875.1:c.188G>A | ENSP00000501122.1:p.Arg63Gln |