gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58266704 (EAS)
Genomes Max Group AF
0.58266704 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102824377G>A , CM000673.2:g.102824377G>A | GRCh38 |
| NC_000011.9:g.102695108G>A , CM000673.1:g.102695108G>A | GRCh37 |
| NC_000011.8:g.102200318G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371455.7:n.424-6355G>A | ||
| ENST00000525739.6:n.683-6355G>A | ||
| ENST00000544704.1:n.444-6355G>A | ||
| NR_038390.1:n.683-6355G>A |