gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47493197 (EAS)
Genomes Max Group AF
0.47493197 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.133875536C>A , CM000668.2:g.133875536C>A | GRCh38 |
| NC_000006.11:g.134196674C>A , CM000668.1:g.134196674C>A | GRCh37 |
| NC_000006.10:g.134238367C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109982.1:n.403+13068G>T |