gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18184782 (EAS)
Genomes Max Group AF
0.18184782 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.64209921A>G , CM000680.2:g.64209921A>G | GRCh38 |
| NC_000018.9:g.61877156A>G , CM000680.1:g.61877156A>G | GRCh37 |
| NC_000018.8:g.60028136A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033881.1:n.201-39380A>G |