gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.71748546 (AFR)
Genomes Max Group AF
0.71748546 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.171936113C>T , CM000665.2:g.171936113C>T | GRCh38 |
| NC_000003.11:g.171653903C>T , CM000665.1:g.171653903C>T | GRCh37 |
| NC_000003.10:g.173136597C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420375.5:c.702-1925C>T | ||
| ENST00000469981.1:n.409-1925C>T | ||
| XR_924719.1:n.409-1925C>T | ||
| XR_924719.2:n.456-1925C>T |