Canonical Allele Identifier:
CA1886872679
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.3762065G>C , CM000672.2:g.3762065G>C | GRCh38 |
| NC_000010.10:g.3804257G>C , CM000672.1:g.3804257G>C | GRCh37 |
| NC_000010.9:g.3794257G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930579.1:n.375-953G>C | ||
| XR_001747332.1:n.190-953G>C |