Canonical Allele Identifier:
CA262423212
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91683804 (SAS)
Genomes Max Group AF
0.91683804 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.63133372T>C , CM000676.2:g.63133372T>C | GRCh38 |
| NC_000014.8:g.63600090T>C , CM000676.1:g.63600090T>C | GRCh37 |
| NC_000014.7:g.62669843T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943934.1:n.730-5161A>G | ||
| XR_943935.1:n.467-5161A>G | ||
| XR_943936.1:n.623-5161A>G | ||
| XR_943938.1:n.173-5161A>G | ||
| XR_943934.3:n.675-5161A>G | ||
| XR_943935.3:n.773-5161A>G | ||
| XR_943936.3:n.938-5161A>G | ||
| XR_943938.3:n.649-5161A>G |