gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74436156 (NFE)
Genomes Max Group AF
0.74436156 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177415473T>C , CM000667.2:g.177415473T>C | GRCh38 |
| NC_000005.9:g.176842474T>C , CM000667.1:g.176842474T>C | GRCh37 |
| NC_000005.8:g.176775080T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696200.1:n.78+1033A>G (F12) | ||
| ENST00000502598.5:c.-45+11947T>C (GRK6) | ENSP00000422873.1:n.-45+11947T>C | |
| ENST00000506296.5:c.-45+10916T>C (GRK6) | ENSP00000421055.1:n.-45+10916T>C | |
| XM_011534461.1:c.-26+1033A>G (F12) | XP_011532763.1:n.-26+1033A>G |