Canonical Allele Identifier: CA1817441719
Gene:

Linked Data

dbSNP Id: rs1812774890
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478360C>T , CM000670.2:g.125478360C>T GRCh38
NC_000008.10:g.126490602C>T , CM000670.1:g.126490602C>T GRCh37
NC_000008.9:g.126559784C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5046C>T
Search 100 bp 5'
Search 100 bp 3'