gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34463101 (NFE)
Genomes Max Group AF
0.34463101 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.118351841A>G , CM000669.2:g.118351841A>G | GRCh38 |
| NC_000007.13:g.117991895A>G , CM000669.1:g.117991895A>G | GRCh37 |
| NC_000007.12:g.117779131A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433239.6:n.1178+27266A>G | ||
| ENST00000634332.1:n.256+28845A>G |