gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56552768 (AFR)
Genomes Max Group AF
0.56552768 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16822225G>A , CM000669.2:g.16822225G>A | GRCh38 |
| NC_000007.13:g.16861849G>A , CM000669.1:g.16861849G>A | GRCh37 |
| NC_000007.12:g.16828374G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412973.1:c.-98-10470C>T | ENSP00000411969.1:n.-98-10470C>T |