gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32390083 (EAS)
Genomes Max Group AF
0.32390083 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95566012A>G , CM000674.2:g.95566012A>G | GRCh38 |
| NC_000012.11:g.95959788A>G , CM000674.1:g.95959788A>G | GRCh37 |
| NC_000012.10:g.94483919A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000626376.2:n.219+14212A>G |