Canonical Allele Identifier: CA1596629097
Gene:

Linked Data

dbSNP Id: rs1756514990

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162656530G>A , CM000667.2:g.162656530G>A GRCh38
NC_000005.9:g.162083536G>A , CM000667.1:g.162083536G>A GRCh37
NC_000005.8:g.162016114G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742958.1:n.418+3572C>T