gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96523255 (EAS)
Genomes Max Group AF
0.96523255 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40047293A>C , CM000677.2:g.40047293A>C | GRCh38 |
| NC_000015.9:g.40339494A>C , CM000677.1:g.40339494A>C | GRCh37 |
| NC_000015.8:g.38126786A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040059.1:n.389+1224A>C | ||
| NR_040060.1:n.247+1224A>C | ||
| NR_040061.1:n.247+1224A>C | ||
| NR_040062.1:n.247+1224A>C |