ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA214693406
Gene:
Linked Data
dbSNP Id:
rs1472750
gnomAD v2:
10-115235114-T-C
gnomAD v3:
10-113475355-T-C
gnomAD v4:
10-113475355-T-C
MyVariant Identifiers:
chr10:g.115235114T>C (hg19)
chr10:g.113475355T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.113475355T>C , CM000672.2:g.113475355T>C
GRCh38
NC_000010.10:g.115235114T>C , CM000672.1:g.115235114T>C
GRCh37
NC_000010.9:g.115225104T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001747590.2:n.6093-1219T>C
Search 100 bp 5'
Search 100 bp 3'