gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7393046 (NFE)
Genomes Max Group AF
0.7393046 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115801679G>A , CM000670.2:g.115801679G>A | GRCh38 |
| NC_000008.10:g.116813905G>A , CM000670.1:g.116813905G>A | GRCh37 |
| NC_000008.9:g.116883081G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422939.1:c.-356+7954C>T | ENSP00000405028.1:n.-356+7954C>T |