Canonical Allele Identifier: CA118713
Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 7323
ClinVar RCV Id: RCV001699177 RCV002490336
dbSNP Id: rs113487931
ExAC: 3:169482791 C / T
gnomAD v2: 3-169482791-C-T
gnomAD v3: 3-169765003-C-T
gnomAD v4: 3-169765003-C-T
MyVariant Identifiers: chr3:g.169482791C>T (hg19) chr3:g.169765003C>T (hg38)
PubMed: PMID:12090986 PMID:12676774 PMID:12972604 PMID:15319288 PMID:20301779
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169765003C>T , CM000665.2:g.169765003C>T GRCh38
NC_000003.11:g.169482791C>T , CM000665.1:g.169482791C>T GRCh37
NC_000003.10:g.170965485C>T NCBI36
NG_016363.1:g.5058G>A , LRG_347:g.5058G>A

Transcript Alleles

HGVS Amino-acid change
NR_001566.1:n.58G>A , LRG_347t1:n.58G>A
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