gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9142148 (AFR)
Genomes Max Group AF
0.9142148 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46209161C>T , CM000665.2:g.46209161C>T | GRCh38 |
| NC_000003.11:g.46250652C>T , CM000665.1:g.46250652C>T | GRCh37 |
| NC_000003.10:g.46225656C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357422.2:c.-284-1530C>T | ENSP00000350003.2:n.-284-1530C>T |