gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55975372 (SAS)
Genomes Max Group AF
0.55975372 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.51544081C>T , CM000676.2:g.51544081C>T | GRCh38 |
| NC_000014.8:g.52010799C>T , CM000676.1:g.52010799C>T | GRCh37 |
| NC_000014.7:g.51080549C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356218.8:c.-209-26267C>T (FRMD6) | ENSP00000348550.4:n.-209-26267C>T | |
| ENST00000556137.5:n.446-26267C>T (FRMD6) | ||
| NM_001042481.2:c.-209-26267C>T (FRMD6) | NP_001035946.1:n.-209-26267C>T | |
| NR_051990.1:n.244+40085G>A (FRMD6-AS2) | ||
| XM_011536423.1:c.-209-26267C>T (FRMD6) | XP_011534725.1:n.-209-26267C>T | |
| XM_011536424.1:c.-209-26267C>T (FRMD6) | XP_011534726.1:n.-209-26267C>T | |
| XM_024449473.1:c.-147+54661C>T (FRMD6) | XP_024305241.1:n.-147+54661C>T | |
| NM_001042481.3:c.-209-26267C>T (FRMD6) | NP_001035946.1:n.-209-26267C>T |