gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66977798 (NFE)
Genomes Max Group AF
0.66977798 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41772310C>T , CM000669.2:g.41772310C>T | GRCh38 |
| NC_000007.13:g.41811908C>T , CM000669.1:g.41811908C>T | GRCh37 |
| NC_000007.12:g.41778433C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027118.1:n.359-586C>T | ||
| NR_027118.2:n.356-586C>T | ||
| XR_001745185.1:n.964+36596C>T | ||
| XR_001745186.1:n.954+36606C>T |