gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45921608 (AFR)
Genomes Max Group AF
0.45921608 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.101481058T>G , CM000666.2:g.101481058T>G | GRCh38 |
| NC_000004.11:g.102402215T>G , CM000666.1:g.102402215T>G | GRCh37 |
| NC_000004.10:g.102621238T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504592.5:c.-256+58400T>G | ENSP00000421443.1:n.-256+58400T>G |