gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041165 (EAS)
Exomes Max Group AF
0.0004462 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227099T>C , CM000673.2:g.5227099T>C | GRCh38 |
| NC_000011.9:g.5248329T>C , CM000673.1:g.5248329T>C | GRCh37 |
| NC_000011.8:g.5204905T>C | NCBI36 |
| NG_000007.3:g.70517A>G | |
| NG_059281.1:g.4973A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-78A>G | ENSP00000494175.1:n.-78A>G | |
| ENST00000380315.2:c.-18-60A>G | ENSP00000369671.2:n.-18-60A>G |