gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69622463 (MID)
Genomes Max Group AF
0.66532947 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135163402C>A , CM000667.2:g.135163402C>A | GRCh38 |
| NC_000005.9:g.134499092C>A , CM000667.1:g.134499092C>A | GRCh37 |
| NC_000005.8:g.134526991C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001277348.1:c.-492-10640C>A | NP_001264277.1:n.-492-10640C>A | |
| NR_161235.1:n.337-10640C>A |