Canonical Allele Identifier: CA14646359
Gene: NR1H2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.50376267C>G
GRCh37 chr19:g.50879524C>G
gnomAD v2:
19:50879524 C / G
gnomAD v3:
19:50376267 C / G
gnomAD v4:
chr19-50376267-C-G
Joint Max Group AF 0.37083676 (AMR)
Genomes Max Group AF 0.37083676 (AMR)
Exomes Max Group AF 0.06814 (NFE)
ClinVar RCV:
RCV001672322
ClinVar Variation:
1263505
dbSNP:
17373080
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50376267C>G , CM000681.2:g.50376267C>G GRCh38
NC_000019.9:g.50879524C>G , CM000681.1:g.50879524C>G GRCh37
NC_000019.8:g.55571336C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000652203.1:c.-127-452C>G ENSP00000499121.1:n.-127-452C>G
ENST00000593532.5:c.-437C>G ENSP00000472271.1:n.-437C>G
ENST00000600355.5:c.-127-452C>G ENSP00000473099.1:n.-127-452C>G
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