Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58692563C>T , CM000679.2:g.58692563C>T | GRCh38 |
| NC_000017.10:g.56769924C>T , CM000679.1:g.56769924C>T | GRCh37 |
| NC_000017.9:g.54124923C>T | NCBI36 |
| NG_023199.1:g.4962C>T , LRG_314:g.4962C>T | |
| NG_047169.1:g.4517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006722005.2:c.-276C>T | XP_006722068.1:n.-276C>T | |
| XM_006722001.4:c.-81C>T | XP_006722064.1:n.-81C>T | |
| XM_006722002.4:c.-81C>T | XP_006722065.1:n.-81C>T | |
| XM_006722005.3:c.-276C>T | XP_006722068.1:n.-276C>T | |
| XM_017024917.1:c.-276C>T | XP_016880406.1:n.-276C>T | |
| XR_934513.3:n.424C>T | ||
| XR_934514.3:n.424C>T |