gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19024377C>A , CM000686.2:g.19024377C>A | GRCh38 |
| NC_000024.9:g.21186263C>A , CM000686.1:g.21186263C>A | GRCh37 |
| NC_000024.8:g.19645651C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125733.1:n.578+44347G>T | ||
| NR_125734.1:n.578+44347G>T | ||
| NR_125735.1:n.503+52668G>T | ||
| NR_125736.1:n.138+44347G>T | ||
| NR_125737.1:n.138+44347G>T | ||
| NR_001543.4:n.503+52668G>T | ||
| NR_125737.2:n.138+44347G>T | ||
| NR_158640.1:n.152+49122G>T | ||
| NR_158641.1:n.368+20165G>T |