gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74098543 (EAS)
Genomes Max Group AF
0.74098543 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63037684A>G , CM000682.2:g.63037684A>G | GRCh38 |
| NC_000020.10:g.61669036A>G , CM000682.1:g.61669036A>G | GRCh37 |
| NC_000020.9:g.61139481A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033370.1:n.91+28211A>G |