gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5484165 (EAS)
Genomes Max Group AF
0.5484165 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100142995C>A , CM000664.2:g.100142995C>A | GRCh38 |
| NC_000002.11:g.100759457C>A , CM000664.1:g.100759457C>A | GRCh37 |
| NC_000002.10:g.100125889C>A | NCBI36 |
| NG_052835.1:g.4589G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672999.1:n.288-400G>T |