gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50425676 (EAS)
Genomes Max Group AF
0.50425676 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75483619G>A , CM000664.2:g.75483619G>A | GRCh38 |
| NC_000002.11:g.75710745G>A , CM000664.1:g.75710745G>A | GRCh37 |
| NC_000002.10:g.75564253G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485891.1:n.411-14249C>T | ||
| ENST00000490746.5:n.521-14249C>T |