Canonical Allele Identifier: CA1816081259
Gene:

Linked Data

dbSNP Id: rs1586448224

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395970A>C , CM000670.2:g.122395970A>C GRCh38
NC_000008.10:g.123408209A>C , CM000670.1:g.123408209A>C GRCh37
NC_000008.9:g.123477390A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3202T>G
XR_928599.3:n.152+3202T>G