Canonical Allele Identifier: CA1816081245
Gene:

Linked Data

dbSNP Id: rs1296090344

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395931T>G , CM000670.2:g.122395931T>G GRCh38
NC_000008.10:g.123408170T>G , CM000670.1:g.123408170T>G GRCh37
NC_000008.9:g.123477351T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3241A>C
XR_928599.3:n.152+3241A>C