gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1779962 (MID)
Genomes Max Group AF
0.17230187 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.73183228C>T , CM000673.2:g.73183228C>T | GRCh38 |
| NC_000011.9:g.72894273C>T , CM000673.1:g.72894273C>T | GRCh37 |
| NC_000011.8:g.72571921C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_950294.1:n.351G>A | ||
| XR_001748496.1:n.351G>A | ||
| XR_950294.2:n.351G>A |