gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28221589 (SAS)
Genomes Max Group AF
0.28221589 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.22180454A>G , CM000679.2:g.22180454A>G | GRCh38 |
| NC_000017.10:g.21707060A>G , CM000679.1:g.21707060A>G | GRCh37 |
| NC_000017.9:g.21631187A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688301.1:n.158-23633A>G | ||
| ENST00000648259.1:n.167-1085A>G |