Canonical Allele Identifier: CA2221132886
Gene:

Linked Data

dbSNP Id: rs1961470256
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108811G>A , CM000678.2:g.49108811G>A GRCh38
NC_000016.9:g.49142722G>A , CM000678.1:g.49142722G>A GRCh37
NC_000016.8:g.47700223G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1133C>T
XR_001752138.2:n.591+5165C>T
XR_933517.2:n.810+1133C>T
Search 100 bp 5'
Search 100 bp 3'