Canonical Allele Identifier: CA855697543
Gene:

Linked Data

dbSNP Id: rs1216623713

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.79191190G>C , CM000670.2:g.79191190G>C GRCh38
NC_000008.10:g.80103425G>C , CM000670.1:g.80103425G>C GRCh37
NC_000008.9:g.80265980G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001745720.1:n.105+819G>C