gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72655642 (EAS)
Genomes Max Group AF
0.72655642 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108259797A>G , CM000675.2:g.108259797A>G | GRCh38 |
| NC_000013.10:g.108912145A>G , CM000675.1:g.108912145A>G | GRCh37 |
| NC_000013.9:g.107710146A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486502.1:n.77+8481A>G | ||
| XR_931715.1:n.1254-6822A>G |