Canonical Allele Identifier: CA181599872
Gene:

Linked Data

dbSNP Id: rs1041122742

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88981175A>C , CM000670.2:g.88981175A>C GRCh38
NC_000008.10:g.89993404A>C , CM000670.1:g.89993404A>C GRCh37
NC_000008.9:g.90062520A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956667.1:n.179-99114T>G