gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63738263 (NFE)
Genomes Max Group AF
0.63738263 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161684168G>A , CM000667.2:g.161684168G>A | GRCh38 |
| NC_000005.9:g.161111174G>A , CM000667.1:g.161111174G>A | GRCh37 |
| NC_000005.8:g.161043752G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518888.1:n.293-1531G>A | ||
| ENST00000522269.5:n.352-2062G>A |