gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36409089 (NFE)
Genomes Max Group AF
0.36409089 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.30303914G>A , CM000664.2:g.30303914G>A | GRCh38 |
| NC_000002.11:g.30526780G>A , CM000664.1:g.30526780G>A | GRCh37 |
| NC_000002.10:g.30380284G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404397.5:c.130-19605G>A | ENSP00000384443.1:n.130-19605G>A |