gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27050257 (SAS)
Genomes Max Group AF
0.27050257 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.157119117G>A , CM000665.2:g.157119117G>A | GRCh38 |
| NC_000003.11:g.156836906G>A , CM000665.1:g.156836906G>A | GRCh37 |
| NC_000003.10:g.158319600G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_034007.1:n.127+3759C>T |