Canonical Allele Identifier:
CA2002397746
Gene:
Linked Data
dbSNP Id:
rs1864209936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116072534G>A , CM000673.2:g.116072534G>A | GRCh38 |
| NC_000011.9:g.115943252G>A , CM000673.1:g.115943252G>A | GRCh37 |
| NC_000011.8:g.115448462G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948055.1:n.192+480C>T | ||
| XR_948056.1:n.311-5329C>T | ||
| XR_948057.1:n.97+575C>T | ||
| XR_001748401.1:n.192+480C>T | ||
| XR_948055.2:n.192+480C>T | ||
| XR_948056.2:n.314-5329C>T | ||
| XR_948057.2:n.97+575C>T |