Canonical Allele Identifier: CA14704674

Gene: NR1H2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50379362T>C , CM000681.2:g.50379362T>C	GRCh38
NC_000019.9:g.50882619T>C , CM000681.1:g.50882619T>C	GRCh37
NC_000019.8:g.55574431T>C	NCBI36
NG_033800.1:g.40T>C , LRG_785:g.40T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253727.10:c.927+181T>C MANE Select	ENSP00000253727.4:n.927+181T>C
ENST00000652203.1:c.927+181T>C	ENSP00000499121.1:n.927+181T>C
ENST00000253727.9:c.927+181T>C	ENSP00000253727.4:n.927+181T>C
ENST00000411902.6:c.636+181T>C	ENSP00000396151.2:n.636+181T>C
ENST00000593532.5:c.*137+181T>C	ENSP00000472271.1:n.*137+181T>C
ENST00000593926.5:c.927+181T>C	ENSP00000471194.1:n.927+181T>C
ENST00000597085.1:n.441+181T>C
ENST00000598168.5:c.837+181T>C	ENSP00000471294.1:n.837+181T>C
ENST00000599105.5:c.795+181T>C	ENSP00000472526.1:n.795+181T>C
NM_001256647.1:c.639+181T>C	NP_001243576.1:n.639+181T>C
NM_007121.5:c.930+181T>C	NP_009052.3:n.930+181T>C
NM_001256647.2:c.636+181T>C	NP_001243576.2:n.636+181T>C
NM_007121.6:c.927+181T>C	NP_009052.4:n.927+181T>C
NM_007121.7:c.927+181T>C MANE Select	NP_009052.4:n.927+181T>C
NM_001256647.3:c.636+181T>C	NP_001243576.2:n.636+181T>C