gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53231147 (NFE)
Genomes Max Group AF
0.53231147 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53824112T>C , CM000676.2:g.53824112T>C | GRCh38 |
| NC_000014.8:g.54290830T>C , CM000676.1:g.54290830T>C | GRCh37 |
| NC_000014.7:g.53360580T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943872.1:n.392+25610A>G | ||
| XR_943873.1:n.299+25703A>G | ||
| XR_943874.1:n.392+25610A>G | ||
| XR_943875.1:n.392+25610A>G | ||
| XR_943878.1:n.330-50392T>C | ||
| XR_001750967.2:n.416+25610A>G | ||
| XR_001750968.1:n.324+25703A>G | ||
| XR_943872.3:n.415+25610A>G | ||
| XR_943873.2:n.322+25703A>G | ||
| XR_943874.3:n.419+25610A>G |