gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27161463 (NFE)
Genomes Max Group AF
0.27161463 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38490214C>T , CM000666.2:g.38490214C>T | GRCh38 |
| NC_000004.11:g.38491835C>T , CM000666.1:g.38491835C>T | GRCh37 |
| NC_000004.10:g.38168230C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110951.1:n.184+3779G>A |