Canonical Allele Identifier: CA1817437266
Gene:

Linked Data

dbSNP Id: rs1815191656
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125474129T>C , CM000670.2:g.125474129T>C GRCh38
NC_000008.10:g.126486371T>C , CM000670.1:g.126486371T>C GRCh37
NC_000008.9:g.126555553T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+815T>C
Search 100 bp 5'
Search 100 bp 3'