gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81422576 (EAS)
Genomes Max Group AF
0.81422576 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58449913C>T , CM000680.2:g.58449913C>T | GRCh38 |
| NC_000018.9:g.56117145C>T , CM000680.1:g.56117145C>T | GRCh37 |
| NC_000018.8:g.54268125C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753465.2:n.1152C>T | ||
| NR_170243.1:n.307+373C>T | ||
| NR_170244.1:n.307+373C>T | ||
| NR_170245.1:n.307+373C>T |