gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16927742 (EAS)
Genomes Max Group AF
0.16927742 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229150111G>A , CM000663.2:g.229150111G>A | GRCh38 |
| NC_000001.10:g.229285858G>A , CM000663.1:g.229285858G>A | GRCh37 |
| NC_000001.9:g.227352481G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_949235.1:n.228+33939C>T | ||
| XR_949236.1:n.228+33939C>T | ||
| XR_949237.1:n.228+33939C>T | ||
| XR_949238.1:n.94+34073C>T | ||
| XR_949239.1:n.228+33939C>T | ||
| XR_949240.1:n.94+34073C>T | ||
| XR_949241.1:n.95-26998C>T | ||
| XR_949243.1:n.228+33939C>T | ||
| XR_002958475.1:n.746+47587C>T | ||
| XR_002958486.1:n.414+33939C>T | ||
| XR_002958487.1:n.279+34073C>T | ||
| XR_002958488.1:n.415+33939C>T | ||
| XR_949235.2:n.413+33939C>T | ||
| XR_949236.2:n.411+33939C>T | ||
| XR_949239.2:n.406+33939C>T | ||
| XR_949240.2:n.272+34073C>T | ||
| XR_949241.2:n.278-26998C>T |