Canonical Allele Identifier: CA1817442076
Gene:

Linked Data

dbSNP Id: rs1812790669
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478833T>C , CM000670.2:g.125478833T>C GRCh38
NC_000008.10:g.126491075T>C , CM000670.1:g.126491075T>C GRCh37
NC_000008.9:g.126560257T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5519T>C
Search 100 bp 5'
Search 100 bp 3'