gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60342086 (NFE)
Genomes Max Group AF
0.60342086 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43963266C>T , CM000672.2:g.43963266C>T | GRCh38 |
| NC_000010.10:g.44458714C>T , CM000672.1:g.44458714C>T | GRCh37 |
| NC_000010.9:g.43778720C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033846.1:n.605-2117C>T | ||
| NR_033846.2:n.613-2117C>T | ||
| NR_136147.1:n.397+7951C>T |