gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59418978 (EAS)
Genomes Max Group AF
0.59418978 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.91590040A>C , CM000672.2:g.91590040A>C | GRCh38 |
| NC_000010.10:g.93349797A>C , CM000672.1:g.93349797A>C | GRCh37 |
| NC_000010.9:g.93339777A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024467.1:n.110+21311T>G |