Canonical Allele Identifier:
CA2002397802
Gene:
Linked Data
dbSNP Id:
rs1864211566
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116072640G>T , CM000673.2:g.116072640G>T | GRCh38 |
| NC_000011.9:g.115943358G>T , CM000673.1:g.115943358G>T | GRCh37 |
| NC_000011.8:g.115448568G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948055.1:n.192+374C>A | ||
| XR_948056.1:n.311-5435C>A | ||
| XR_948057.1:n.97+469C>A | ||
| XR_001748401.1:n.192+374C>A | ||
| XR_948055.2:n.192+374C>A | ||
| XR_948056.2:n.314-5435C>A | ||
| XR_948057.2:n.97+469C>A |