gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18105155 (MID)
Genomes Max Group AF
0.16472595 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.187970102C>A , CM000665.2:g.187970102C>A | GRCh38 |
| NC_000003.11:g.187687890C>A , CM000665.1:g.187687890C>A | GRCh37 |
| NC_000003.10:g.189170584C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924815.1:n.97-2893G>T | ||
| NR_135537.1:n.83-2893G>T | ||
| NR_135538.1:n.83-2893G>T |