gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16307691 (EAS)
Genomes Max Group AF
0.16307691 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51002034G>A , CM000675.2:g.51002034G>A | GRCh38 |
| NC_000013.10:g.51576170G>A , CM000675.1:g.51576170G>A | GRCh37 |
| NC_000013.9:g.50474171G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643529.1:c.338+8327G>A (RNASEH2B) | ||
| ENST00000493639.6:n.2570+2219C>T (GUCY1B2) | ||
| ENST00000533288.5:n.257+2219C>T (GUCY1B2) | ||
| NR_003923.2:n.2721+2219C>T (GUCY1B2) |