gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028059 (AFR)
Genomes Max Group AF
0.00028059 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.198304372T>G , CM000664.2:g.198304372T>G | GRCh38 |
| NC_000002.11:g.199169096T>G , CM000664.1:g.199169096T>G | GRCh37 |
| NC_000002.10:g.198877341T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625084.1:n.45-50923T>G (PLCL1) | ||
| NR_110267.1:n.358-2556A>C (LINC01923) |