dbSNP:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19054746C>A , CM000686.2:g.19054746C>A | GRCh38 |
| NC_000024.9:g.21216632C>A , CM000686.1:g.21216632C>A | GRCh37 |
| NC_000024.8:g.19676020C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001543.3:n.596-3272G>T | ||
| NR_125733.1:n.578+13978G>T | ||
| NR_125734.1:n.578+13978G>T | ||
| NR_125735.1:n.503+22299G>T | ||
| NR_125736.1:n.138+13978G>T | ||
| NR_125737.1:n.138+13978G>T | ||
| NR_001543.4:n.503+22299G>T | ||
| NR_125737.2:n.138+13978G>T | ||
| NR_158640.1:n.152+18753G>T | ||
| NR_158641.1:n.165-9455G>T |