Canonical Allele Identifier: CA1702564142
Gene:

Linked Data

dbSNP Id: rs1583647811

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41782389T>C , CM000669.2:g.41782389T>C GRCh38
NC_000007.13:g.41821987T>C , CM000669.1:g.41821987T>C GRCh37
NC_000007.12:g.41788512T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745185.1:n.964+46675T>C
XR_001745186.1:n.954+46685T>C