Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1400371G>A , CM000679.2:g.1400371G>A | GRCh38 |
| NC_000017.10:g.1303665G>A , CM000679.1:g.1303665G>A | GRCh37 |
| NC_000017.9:g.1250415G>A | NCBI36 |
| NG_009233.1:g.4892C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264335.12:c.-261C>T | ENSP00000264335.8:n.-261C>T | |
| XM_005256784.2:c.-261C>T | XP_005256841.1:n.-261C>T |