gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1884514 (MID)
Genomes Max Group AF
0.12010697 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.67618042A>G , CM000680.2:g.67618042A>G | GRCh38 |
| NC_000018.9:g.65285279A>G , CM000680.1:g.65285279A>G | GRCh37 |
| NC_000018.8:g.63436259A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033921.1:n.204+101293A>G | ||
| XR_935590.1:n.76+5746T>C | ||
| XR_935590.2:n.2632+5746T>C |