Canonical Allele Identifier:
CA1017893753
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45495883A>C , CM000682.2:g.45495883A>C | GRCh38 |
| NC_000020.10:g.44124523A>C , CM000682.1:g.44124523A>C | GRCh37 |
| NC_000020.9:g.43557937A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754641.2:n.67+8173A>C |