gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41446151 (NFE)
Genomes Max Group AF
0.41446151 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.6567183A>G , CM000680.2:g.6567183A>G | GRCh38 |
| NC_000018.9:g.6567182A>G , CM000680.1:g.6567182A>G | GRCh37 |
| NC_000018.8:g.6557182A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120518.1:n.284-8807A>G | ||
| XR_935116.1:n.98-1350A>G | ||
| XR_001753341.2:n.1022A>G | ||
| XR_935116.3:n.365-1350A>G |