Canonical Allele Identifier:
CA2002397685
Gene:
Linked Data
dbSNP Id:
rs1864208617
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116072416C>T , CM000673.2:g.116072416C>T | GRCh38 |
| NC_000011.9:g.115943134C>T , CM000673.1:g.115943134C>T | GRCh37 |
| NC_000011.8:g.115448344C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948055.1:n.192+598G>A | ||
| XR_948056.1:n.311-5211G>A | ||
| XR_948057.1:n.97+693G>A | ||
| XR_001748401.1:n.192+598G>A | ||
| XR_948055.2:n.192+598G>A | ||
| XR_948056.2:n.314-5211G>A | ||
| XR_948057.2:n.97+693G>A |