Canonical Allele Identifier:
CA2002397707
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116072465C= , CM000673.2:g.116072465C= | GRCh38 |
| NC_000011.9:g.115943183C= , CM000673.1:g.115943183C= | GRCh37 |
| NC_000011.8:g.115448393C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948055.1:n.192+549G= | ||
| XR_948056.1:n.311-5260G= | ||
| XR_948057.1:n.97+644G= | ||
| XR_001748401.1:n.192+549G= | ||
| XR_948055.2:n.192+549G= | ||
| XR_948056.2:n.314-5260G= | ||
| XR_948057.2:n.97+644G= |