Canonical Allele Identifier: CA15943311
Gene: NR1H2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.50377484T>C
GRCh37 chr19:g.50880741T>C
gnomAD v2:
19:50880741 T / C
gnomAD v3:
19:50377484 T / C
gnomAD v4:
chr19-50377484-T-C
Joint Max Group AF 0.91867276 (AFR)
Genomes Max Group AF 0.91486213 (AFR)
Exomes Max Group AF 0.9193659 (AFR)
dbSNP:
2695121
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50377484T>C , CM000681.2:g.50377484T>C GRCh38
NC_000019.9:g.50880741T>C , CM000681.1:g.50880741T>C GRCh37
NC_000019.8:g.55572553T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253727.10:c.-19-103T>C MANE Select ENSP00000253727.4:n.-19-103T>C
ENST00000652203.1:c.-19-103T>C ENSP00000499121.1:n.-19-103T>C
ENST00000253727.9:c.-19-103T>C ENSP00000253727.4:n.-19-103T>C
ENST00000411902.6:c.-19-103T>C ENSP00000396151.2:n.-19-103T>C
ENST00000593532.5:c.-19-103T>C ENSP00000472271.1:n.-19-103T>C
ENST00000593926.5:c.-19-103T>C ENSP00000471194.1:n.-19-103T>C
ENST00000595730.5:n.229-103T>C
ENST00000597130.5:c.-53-69T>C ENSP00000472138.1:n.-53-69T>C
ENST00000597157.1:c.-122T>C ENSP00000469778.1:n.-122T>C
ENST00000597790.5:c.-19-103T>C ENSP00000470518.1:n.-19-103T>C
ENST00000598168.5:c.-19-103T>C ENSP00000471294.1:n.-19-103T>C
ENST00000599105.5:c.-19-103T>C ENSP00000472526.1:n.-19-103T>C
ENST00000600355.5:c.-19-103T>C ENSP00000473099.1:n.-19-103T>C
NM_001256647.1:c.-19-103T>C NP_001243576.1:n.-19-103T>C
NM_007121.5:c.-19-103T>C NP_009052.3:n.-19-103T>C
NM_001256647.2:c.-19-103T>C NP_001243576.2:n.-19-103T>C
NM_007121.6:c.-19-103T>C NP_009052.4:n.-19-103T>C
NM_007121.7:c.-19-103T>C MANE Select NP_009052.4:n.-19-103T>C
NM_001256647.3:c.-19-103T>C NP_001243576.2:n.-19-103T>C
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