Canonical Allele Identifier: CA1800979839
Gene:

Linked Data

dbSNP Id: rs1041122742

Genomic Alleles

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

Transcript Alleles

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