Canonical Allele Identifier:
CA2002397720
Gene:
Linked Data
dbSNP Id:
rs1864209424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116072483C>G , CM000673.2:g.116072483C>G | GRCh38 |
| NC_000011.9:g.115943201C>G , CM000673.1:g.115943201C>G | GRCh37 |
| NC_000011.8:g.115448411C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948055.1:n.192+531G>C | ||
| XR_948056.1:n.311-5278G>C | ||
| XR_948057.1:n.97+626G>C | ||
| XR_001748401.1:n.192+531G>C | ||
| XR_948055.2:n.192+531G>C | ||
| XR_948056.2:n.314-5278G>C | ||
| XR_948057.2:n.97+626G>C |