gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14460006 (NFE)
Genomes Max Group AF
0.14460006 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.44824206G>A , CM000672.2:g.44824206G>A | GRCh38 |
| NC_000010.10:g.45319654G>A , CM000672.1:g.45319654G>A | GRCh37 |
| NC_000010.9:g.44639660G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033842.1:n.2042-918C>T |