gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08969805 (NFE)
Genomes Max Group AF
0.08969805 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150832361T>C , CM000669.2:g.150832361T>C | GRCh38 |
| NC_000007.13:g.150529449T>C , CM000669.1:g.150529449T>C | GRCh37 |
| NC_000007.12:g.150160382T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467291.5:c.-93+4959T>C | ENSP00000418328.1:n.-93+4959T>C | |
| ENST00000493429.5:c.-93+4959T>C | ENSP00000418614.1:n.-93+4959T>C | |
| XM_011516008.1:c.-182+4959T>C | XP_011514310.1:n.-182+4959T>C | |
| XR_928169.1:n.352-3453A>G | ||
| XR_928170.1:n.482-3453A>G | ||
| XR_928171.1:n.354-3453A>G | ||
| XM_017011944.1:c.-93+4959T>C | XP_016867433.1:n.-93+4959T>C | |
| XM_017011945.1:c.-93+4959T>C | XP_016867434.1:n.-93+4959T>C | |
| XR_928169.2:n.358-3453A>G | ||
| XR_928171.2:n.358-3453A>G |