gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70381284 (EAS)
Genomes Max Group AF
0.70381284 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.91588363G>T , CM000672.2:g.91588363G>T | GRCh38 |
| NC_000010.10:g.93348120G>T , CM000672.1:g.93348120G>T | GRCh37 |
| NC_000010.9:g.93338100G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024467.1:n.110+22988C>A |