gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15695528 (NFE)
Genomes Max Group AF
0.15695528 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.9526947C>A , CM000672.2:g.9526947C>A | GRCh38 |
| NC_000010.10:g.9568910C>A , CM000672.1:g.9568910C>A | GRCh37 |
| NC_000010.9:g.9608916C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930643.1:n.841+6112G>T | ||
| XR_930644.1:n.909+6112G>T | ||
| XR_930645.1:n.715+6112G>T | ||
| XR_930646.1:n.571+6112G>T | ||
| XR_001747363.1:n.475+6112G>T | ||
| XR_930645.2:n.718+6112G>T |