gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03481839 (NFE)
Genomes Max Group AF
0.03481839 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.22329522G>T , CM000686.2:g.22329522G>T | GRCh38 |
| NC_000024.9:g.24475669G>T , CM000686.1:g.24475669G>T | GRCh37 |
| NC_000024.8:g.22885057G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414629.6:c.-5+20552G>T | ENSP00000405745.2:n.-5+20552G>T | |
| ENST00000445779.6:c.-5+20552G>T | ENSP00000389621.2:n.-5+20552G>T |