Canonical Allele Identifier: CA10646264

Gene: ESRRB

Linked Data

• ClinVar Variation Id: 314492
• ClinVar RCV Id: RCV000383484 ; RCV001613005
• dbSNP Id: rs3813545
• gnomAD v2: 14-76967305-T-C
• gnomAD v3: 14-76500962-T-C
• gnomAD v4: 14-76500962-T-C
• MyVariant Identifiers: chr14:g.76967305T>C (hg19) ; chr14:g.76500962T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76500962T>C , CM000676.2:g.76500962T>C	GRCh38
NC_000014.8:g.76967305T>C , CM000676.1:g.76967305T>C	GRCh37
NC_000014.7:g.76037058T>C	NCBI36
NG_012278.1:g.134616T>C
NG_012278.2:g.134616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380887.7:c.*241T>C	ENSP00000370270.2:n.*241T>C
ENST00000644823.1:c.*2504T>C MANE Select	ENSP00000493776.1:n.*2504T>C
ENST00000380887.6:c.*241T>C	ENSP00000370270.2:n.*241T>C
ENST00000509242.5:c.*241T>C	ENSP00000422488.1:n.*241T>C
ENST00000611036.1:n.1317T>C
NM_004452.3:c.*241T>C	NP_004443.3:n.*241T>C
XM_011536547.1:c.*737T>C	XP_011534849.1:n.*737T>C
XM_011536548.1:c.*737T>C	XP_011534850.1:n.*737T>C
XM_011536549.1:c.*737T>C	XP_011534851.1:n.*737T>C
XM_011536550.1:c.*737T>C	XP_011534852.1:n.*737T>C
XM_011536551.1:c.*737T>C	XP_011534853.1:n.*737T>C
XM_011536552.1:c.*737T>C	XP_011534854.1:n.*737T>C
XM_011536553.1:c.*2000T>C	XP_011534855.1:n.*2000T>C
XM_011536554.1:c.*241T>C	XP_011534856.1:n.*241T>C
XM_011536555.1:c.*737T>C	XP_011534857.1:n.*737T>C
XR_943401.1:n.2265T>C
XR_944039.1:n.144+1195A>G
XM_011536547.2:c.*737T>C	XP_011534849.1:n.*737T>C
XM_011536550.2:c.*737T>C	XP_011534852.1:n.*737T>C
XM_011536553.2:c.*2000T>C	XP_011534855.1:n.*2000T>C
XM_011536554.2:c.*241T>C	XP_011534856.1:n.*241T>C
XM_017021085.1:c.*737T>C	XP_016876574.1:n.*737T>C
XM_024449508.1:c.*1080T>C	XP_024305276.1:n.*1080T>C
XM_024449509.1:c.*241T>C	XP_024305277.1:n.*241T>C
XR_943401.2:n.2488T>C
NM_001379180.1:c.*2504T>C MANE Select	NP_001366109.1:n.*2504T>C
NM_004452.4:c.*241T>C	NP_004443.3:n.*241T>C