Canonical Allele Identifier:
CA2002397749
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116072542G= , CM000673.2:g.116072542G= | GRCh38 |
| NC_000011.9:g.115943260G= , CM000673.1:g.115943260G= | GRCh37 |
| NC_000011.8:g.115448470G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948055.1:n.192+472C= | ||
| XR_948056.1:n.311-5337C= | ||
| XR_948057.1:n.97+567C= | ||
| XR_001748401.1:n.192+472C= | ||
| XR_948055.2:n.192+472C= | ||
| XR_948056.2:n.314-5337C= | ||
| XR_948057.2:n.97+567C= |