gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82793453 (NFE)
Genomes Max Group AF
0.82793453 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3496602A>C , CM000672.2:g.3496602A>C | GRCh38 |
| NC_000010.10:g.3538794A>C , CM000672.1:g.3538794A>C | GRCh37 |
| NC_000010.9:g.3528794A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_131187.1:n.162+177746A>C | ||
| XR_930569.1:n.541+1051T>G | ||
| XR_930570.1:n.542-4T>G | ||
| XR_930571.1:n.541+1051T>G | ||
| XR_930572.1:n.562+1051T>G | ||
| XR_930573.1:n.541+1051T>G | ||
| XR_930574.1:n.541+1051T>G | ||
| NR_155743.1:n.631+1051T>G | ||
| NR_155744.1:n.632-4T>G | ||
| NR_155745.1:n.632-4T>G | ||
| NR_155746.1:n.632-366T>G | ||
| XR_001747322.1:n.2230+1051T>G | ||
| XR_001747323.1:n.2091+1051T>G | ||
| XR_001747324.1:n.2230+1051T>G | ||
| XR_001747326.1:n.2071+1051T>G | ||
| XR_001747327.1:n.2230+1051T>G | ||
| XR_002957056.1:n.1961+1051T>G | ||
| XR_002957057.1:n.2119-4T>G | ||
| XR_002957058.1:n.1961+1051T>G | ||
| XR_930569.2:n.1955+1051T>G |