Canonical Allele Identifier: CA833583474
Gene:

Linked Data

dbSNP Id: rs1462862919

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.13400647T>C , CM000669.2:g.13400647T>C GRCh38
NC_000007.13:g.13440272T>C , CM000669.1:g.13440272T>C GRCh37
NC_000007.12:g.13406797T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745097.1:n.147+90324T>C