gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17241667 (AFR)
Genomes Max Group AF
0.17241667 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31873085A>G , CM000675.2:g.31873085A>G | GRCh38 |
| NC_000013.10:g.32447222A>G , CM000675.1:g.32447222A>G | GRCh37 |
| NC_000013.9:g.31345222A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645780.1:c.-254+26146A>G (FRY) | ENSP00000494080.1:n.-254+26146A>G | |
| ENST00000428783.1:n.99+26146A>G (EEF1DP3) | ||
| NR_027062.1:n.157+26146A>G (EEF1DP3) |