Canonical Allele Identifier: CA1816081281
Gene:

Linked Data

dbSNP Id: rs1814949584

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122396007G>A , CM000670.2:g.122396007G>A GRCh38
NC_000008.10:g.123408246G>A , CM000670.1:g.123408246G>A GRCh37
NC_000008.9:g.123477427G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3165C>T
XR_928599.3:n.152+3165C>T