Canonical Allele Identifier: CA832742547
Gene:

Linked Data

dbSNP Id: rs1235809276

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124306450T>C , CM000669.2:g.124306450T>C GRCh38
NC_000007.13:g.123946504T>C , CM000669.1:g.123946504T>C GRCh37
NC_000007.12:g.123733740T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002956584.1:n.73-28T>C