gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52382753 (NFE)
Genomes Max Group AF
0.52382753 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51207348A>G , CM000677.2:g.51207348A>G | GRCh38 |
| NC_000015.9:g.51499545A>G , CM000677.1:g.51499545A>G | GRCh37 |
| NC_000015.8:g.49286837A>G | NCBI36 |
| NG_007982.1:g.136251T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932222.1:n.99-70635A>G (PIRC66) | ||
| NR_146310.1:n.195-70635A>G (MIR4713HG) |