gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63580488 (SAS)
Genomes Max Group AF
0.63580488 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.60593587G>C , CM000663.2:g.60593587G>C | GRCh38 |
| NC_000001.10:g.61059259G>C , CM000663.1:g.61059259G>C | GRCh37 |
| NC_000001.9:g.60831847G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947433.1:n.1774+1951C>G | ||
| XR_947434.1:n.1774+1951C>G | ||
| XR_947435.1:n.1010+1951C>G | ||
| XR_947436.1:n.1774+1951C>G | ||
| XR_947437.1:n.1774+1951C>G | ||
| XR_947438.1:n.1774+1951C>G | ||
| XR_947439.1:n.1774+1951C>G | ||
| NR_146508.1:n.1149+1951C>G |