Canonical Allele Identifier:
CA2002397750
Gene:
Linked Data
dbSNP Id:
rs1591465592
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116072542G>T , CM000673.2:g.116072542G>T | GRCh38 |
| NC_000011.9:g.115943260G>T , CM000673.1:g.115943260G>T | GRCh37 |
| NC_000011.8:g.115448470G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948055.1:n.192+472C>A | ||
| XR_948056.1:n.311-5337C>A | ||
| XR_948057.1:n.97+567C>A | ||
| XR_001748401.1:n.192+472C>A | ||
| XR_948055.2:n.192+472C>A | ||
| XR_948056.2:n.314-5337C>A | ||
| XR_948057.2:n.97+567C>A |