gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03658948 (EAS)
Genomes Max Group AF
0.03658948 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.22364434A>C , CM000686.2:g.22364434A>C | GRCh38 |
| NC_000024.9:g.24510581A>C , CM000686.1:g.24510581A>C | GRCh37 |
| NC_000024.8:g.22919969A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414629.6:c.-4-41010A>C | ENSP00000405745.2:n.-4-41010A>C | |
| ENST00000445779.6:c.-4-41010A>C | ENSP00000389621.2:n.-4-41010A>C |