gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62813762 (NFE)
Genomes Max Group AF
0.62813762 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132233934T>C , CM000667.2:g.132233934T>C | GRCh38 |
| NC_000005.9:g.131569627T>C , CM000667.1:g.131569627T>C | GRCh37 |
| NC_000005.8:g.131597526T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416053.5:c.-18-15290A>G | ENSP00000394953.1:n.-18-15290A>G | |
| ENST00000431054.5:c.79-15290A>G | ENSP00000391257.1:n.79-15290A>G | |
| ENST00000439698.5:c.-18-15290A>G | ENSP00000405406.1:n.-18-15290A>G |