gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31680569 (AFR)
Genomes Max Group AF
0.31680569 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4676371T>C , CM000682.2:g.4676371T>C | GRCh38 |
| NC_000020.10:g.4657017T>C , CM000682.1:g.4657017T>C | GRCh37 |
| NC_000020.9:g.4605017T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652447.1:n.87+8691A>G |