Canonical Allele Identifier: CA10584691
Gene: LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 250927
ClinVar RCV Id: RCV000237379 RCV000863456 RCV001800602
dbSNP Id: rs17249141
gnomAD v2: 19-11200008-C-T
gnomAD v3: 19-11089332-C-T
gnomAD v4: 19-11089332-C-T
MyVariant Identifiers: chr19:g.11200008C>T (hg19) chr19:g.11089332C>T (hg38)
PubMed: PMID:10484771 PMID:18648394
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089332C>T , CM000681.2:g.11089332C>T GRCh38
NC_000019.9:g.11200008C>T , CM000681.1:g.11200008C>T GRCh37
NC_000019.8:g.11061008C>T NCBI36
NG_009060.1:g.4952C>T , LRG_274:g.4952C>T

Transcript Alleles

HGVS Amino-acid Change
NR_163945.1:n.328G>A
Search 100 bp 5'
Search 100 bp 3'