Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58500631A>T , CM000670.2:g.58500631A>T | GRCh38 |
| NC_000008.10:g.59413190A>T , CM000670.1:g.59413190A>T | GRCh37 |
| NC_000008.9:g.59575744A>T | NCBI36 |
| NG_007969.1:g.4532T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011517476.1:c.-24+284T>A | XP_011515778.1:n.-24+284T>A |