Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67523586C>T , CM000673.2:g.67523586C>T | GRCh38 |
| NC_000011.9:g.67291057C>T , CM000673.1:g.67291057C>T | GRCh37 |
| NC_000011.8:g.67047633C>T | NCBI36 |
| NG_032982.1:g.4843G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000545205.2:c.-260G>A | ENSP00000446180.1:n.-260G>A |
| ENST00000636477.1:c.165+626G>A | ENSP00000490746.1:n.165+626G>A |
| XM_005274046.1:c.-246G>A | XP_005274103.1:n.-246G>A |