gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73891528 (NFE)
Genomes Max Group AF
0.73891528 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.19130775A>G , CM000675.2:g.19130775A>G | GRCh38 |
| NC_000013.10:g.19704915A>G , CM000675.1:g.19704915A>G | GRCh37 |
| NC_000013.9:g.18602915A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425713.1:n.493-517A>G |