gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57729619 (EAS)
Genomes Max Group AF
0.57729619 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.134431881G>A , CM000669.2:g.134431881G>A | GRCh38 |
| NC_000007.13:g.134116633G>A , CM000669.1:g.134116633G>A | GRCh37 |
| NC_000007.12:g.133767173G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928002.1:n.94+433C>T | ||
| XR_928003.1:n.94+433C>T | ||
| XR_928004.1:n.77+433C>T | ||
| XR_001745364.1:n.94+433C>T | ||
| XR_001745365.2:n.77+433C>T | ||
| XR_002956586.1:n.77+433C>T | ||
| XR_928002.2:n.129+433C>T | ||
| XR_928003.2:n.121+433C>T |