gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00392873 (NFE)
Genomes Max Group AF
0.00334232 (NFE)
Exomes Max Group AF
0.00394491 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177409584C>G , CM000667.2:g.177409584C>G | GRCh38 |
| NC_000005.9:g.176836585C>G , CM000667.1:g.176836585C>G | GRCh37 |
| NC_000005.8:g.176769191C>G | NCBI36 |
| NG_007568.1:g.4993G>C , LRG_145:g.4993G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696200.1:n.79-32G>C (F12) | ||
| ENST00000502598.5:c.-45+6058C>G (GRK6) | ENSP00000422873.1:n.-45+6058C>G | |
| ENST00000506296.5:c.-45+5027C>G (GRK6) | ENSP00000421055.1:n.-45+5027C>G | |
| XM_011534461.1:c.-25-32G>C (F12) | XP_011532763.1:n.-25-32G>C | |
| XM_017009773.2:c.1417-2180C>G (SLC34A1) | XP_016865262.1:n.1417-2180C>G |