gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39633606 (EAS)
Genomes Max Group AF
0.39633606 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43764932A>G , CM000668.2:g.43764932A>G | GRCh38 |
| NC_000006.11:g.43732669A>G , CM000668.1:g.43732669A>G | GRCh37 |
| NC_000006.10:g.43840647A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001318876.2:c.945+235661A>G | NP_001305805.1:n.945+235661A>G |