gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47073533 (NFE)
Genomes Max Group AF
0.47073533 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23119848G>A , CM000676.2:g.23119848G>A | GRCh38 |
| NC_000014.8:g.23589057G>A , CM000676.1:g.23589057G>A | GRCh37 |
| NC_000014.7:g.22658897G>A | NCBI36 |
| NG_009617.1:g.4418C>T , LRG_45:g.4418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696121.1:n.261+148C>T | ||
| XM_011536359.1:c.73C>T | XP_011534661.1:p.Arg25Cys |