Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19063651C>A , CM000686.2:g.19063651C>A | GRCh38 |
| NC_000024.9:g.21225537C>A , CM000686.1:g.21225537C>A | GRCh37 |
| NC_000024.8:g.19684925C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_001543.3:n.560-5051G>T | ||
| NR_125733.1:n.578+5073G>T | ||
| NR_125734.1:n.578+5073G>T | ||
| NR_125735.1:n.503+13394G>T | ||
| NR_125736.1:n.138+5073G>T | ||
| NR_125737.1:n.138+5073G>T | ||
| NR_001543.4:n.503+13394G>T | ||
| NR_125737.2:n.138+5073G>T | ||
| NR_158640.1:n.152+9848G>T | ||
| NR_158641.1:n.164+5073G>T |