gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11627757 (NFE)
Genomes Max Group AF
0.11628097 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48417317T>C , CM000674.2:g.48417317T>C | GRCh38 |
| NC_000012.11:g.48811100T>C , CM000674.1:g.48811100T>C | GRCh37 |
| NC_000012.10:g.47097367T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609970.1:n.21A>G (OR8S21P) | ||
| XM_011537896.2:c.-449+3735T>C (C12orf54) | XP_011536198.1:n.-449+3735T>C | |
| XM_017018796.1:c.-523+3735T>C (C12orf54) | XP_016874285.1:n.-523+3735T>C |