gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10176613 (NFE)
Genomes Max Group AF
0.10176613 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30311353G>A , CM000668.2:g.30311353G>A | GRCh38 |
| NC_000006.11:g.30279130G>A , CM000668.1:g.30279130G>A | GRCh37 |
| NC_000006.10:g.30387109G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_024052.2:n.1017+2916C>T (HCG18) | ||
| NR_024053.2:n.803+15001C>T (HCG18) | ||
| NR_052012.1:n.126+14656C>T (HCG17) | ||
| NR_102326.1:n.803+15001C>T (HCG18) | ||
| NR_102327.1:n.1006+14798C>T (HCG18) |