dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59024019 (EAS)
Genomes Max Group AF
0.59024019 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.55085469C>T , CM000680.2:g.55085469C>T | GRCh38 |
| NC_000018.9:g.52752700C>T , CM000680.1:g.52752700C>T | GRCh37 |
| NC_000018.8:g.50903698C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935478.2:n.165G>A |