gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42184957 (NFE)
Genomes Max Group AF
0.42184957 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56691261A>G , CM000678.2:g.56691261A>G | GRCh38 |
| NC_000016.9:g.56725173A>G , CM000678.1:g.56725173A>G | GRCh37 |
| NC_000016.8:g.55282674A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622334.1:c.*130+51181A>G | ENSP00000478425.1:n.*130+51181A>G |