Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390349G>A , CM000673.2:g.6390349G>A | GRCh38 |
| NC_000011.9:g.6411579G>A , CM000673.1:g.6411579G>A | GRCh37 |
| NC_000011.8:g.6368155G>A | NCBI36 |
| NG_011780.1:g.4925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005253075.3:c.-250G>A | XP_005253132.1:n.-250G>A | |
| XM_011520303.1:c.-250G>A | XP_011518605.1:n.-250G>A | |
| XM_011520304.1:c.-250G>A | XP_011518606.1:n.-250G>A | |
| XR_930886.1:n.49G>A |