gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17258114 (AFR)
Genomes Max Group AF
0.17258114 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.31872705C>T , CM000675.2:g.31872705C>T | GRCh38 |
| NC_000013.10:g.32446842C>T , CM000675.1:g.32446842C>T | GRCh37 |
| NC_000013.9:g.31344842C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645780.1:c.-254+25766C>T (FRY) | ENSP00000494080.1:n.-254+25766C>T | |
| ENST00000428783.1:n.99+25766C>T (EEF1DP3) | ||
| NR_027062.1:n.157+25766C>T (EEF1DP3) |