gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34848664 (NFE)
Genomes Max Group AF
0.34835441 (NFE)
Exomes Max Group AF
0.32724953 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403335A>T , CM000673.2:g.130403335A>T | GRCh38 |
| NC_000011.9:g.130273230A>T , CM000673.1:g.130273230A>T | GRCh37 |
| NC_000011.8:g.129778440A>T | NCBI36 |
| NG_052870.1:g.30659T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2430A>T | ||
| XR_948178.1:n.2084A>T | ||
| XR_948179.1:n.2002A>T | ||
| XR_948180.1:n.2002A>T | ||
| XR_948181.1:n.571A>T | ||
| XR_948182.1:n.2162A>T | ||
| XR_948183.1:n.458+9536A>T | ||
| XR_948184.1:n.493A>T | ||
| XR_948185.1:n.422A>T | ||
| XR_948187.1:n.458+9536A>T | ||
| XR_948188.1:n.325A>T | ||
| XR_948189.1:n.373A>T | ||
| NR_148980.1:n.646A>T |