gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30915797 (EAS)
Genomes Max Group AF
0.30915797 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44225494A>G , CM000682.2:g.44225494A>G | GRCh38 |
| NC_000020.10:g.42854134A>G , CM000682.1:g.42854134A>G | GRCh37 |
| NC_000020.9:g.42287548A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038337.2:n.1196A>G | ||
| NR_038338.2:n.1065A>G | ||
| NR_038339.2:n.908A>G |