Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108222819G>A , CM000673.2:g.108222819G>A | GRCh38 |
| NC_000011.9:g.108093546G>A , CM000673.1:g.108093546G>A | GRCh37 |
| NC_000011.8:g.107598756G>A | NCBI36 |
| NG_009830.1:g.4988G>A , LRG_135:g.4988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527805.5:c.-398G>A | ENSP00000435747.1:n.-398G>A | |
| XM_011542843.1:c.-398G>A | XP_011541145.1:n.-398G>A | |
| XM_011542846.1:c.-398G>A | XP_011541148.1:n.-398G>A | |
| XM_011542843.2:c.-398G>A | XP_011541145.1:n.-398G>A | |
| XM_017017791.1:c.-398G>A | XP_016873280.1:n.-398G>A | |
| XM_017017792.2:c.-398G>A | XP_016873281.1:n.-398G>A | |
| XR_002957150.1:n.336G>A |