dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27304967 (SAS)
Genomes Max Group AF
0.27304967 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13767137A>G , CM000686.2:g.13767137A>G | GRCh38 |
| NC_000024.9:g.15879017A>G , CM000686.1:g.15879017A>G | GRCh37 |
| NC_000024.8:g.14388411A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652544.1:n.684+12348A>G | ||
| ENST00000430079.5:n.429+12348A>G | ||
| ENST00000460561.1:n.212+12348A>G | ||
| ENST00000472227.5:n.350+15132A>G |