gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79655586 (SAS)
Genomes Max Group AF
0.79655586 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23781621A>C , CM000685.2:g.23781621A>C | GRCh38 |
| NC_000023.10:g.23799738A>C , CM000685.1:g.23799738A>C | GRCh37 |
| NC_000023.9:g.23709659A>C | NCBI36 |
| NG_012929.1:g.3464A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_950535.1:n.334+947T>G | ||
| XR_001755813.1:n.334+947T>G | ||
| XR_001755814.1:n.334+947T>G | ||
| XR_001755815.1:n.334+947T>G | ||
| XR_001755816.2:n.303+947T>G | ||
| XR_001755817.1:n.325+947T>G | ||
| XR_001755818.2:n.222+1264T>G | ||
| XR_950535.2:n.334+947T>G |