Canonical Allele Identifier: CA135413

Gene: ESRRB

Linked Data

• ClinVar Variation Id: 44997
• ClinVar RCV Id: RCV000038136 ; RCV000392529 ; RCV000487923
• dbSNP Id: rs188462546
• ExAC: 14:76966275 T / C
• gnomAD v2: 14-76966275-T-C
• gnomAD v3: 14-76499932-T-C
• gnomAD v4: 14-76499932-T-C
• COSMIC: COSM3732830
• MyVariant Identifiers: chr14:g.76966275T>C (hg19) ; chr14:g.76499932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76499932T>C , CM000676.2:g.76499932T>C	GRCh38
NC_000014.8:g.76966275T>C , CM000676.1:g.76966275T>C	GRCh37
NC_000014.7:g.76036028T>C	NCBI36
NG_012278.1:g.133586T>C
NG_012278.2:g.133586T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.1366T>C	ENSP00000370270.2:p.Phe456Leu
ENST00000505752.6:c.*50T>C	ENSP00000423004.1:n.*50T>C
ENST00000644823.1:c.*1474T>C MANE Select	ENSP00000493776.1:n.*1474T>C
ENST00000380887.6:c.1366T>C	ENSP00000370270.2:p.Phe456Leu
ENST00000505752.5:c.*50T>C	ENSP00000423004.1:n.*50T>C
ENST00000509242.5:c.1366T>C	ENSP00000422488.1:p.Phe456Leu
ENST00000512784.5:c.1381T>C	ENSP00000424992.1:p.Phe461Leu
ENST00000611036.1:n.287T>C
NM_004452.3:c.1366T>C	NP_004443.3:p.Phe456Leu
XM_011536547.1:c.1429T>C	XP_011534849.1:p.Phe477Leu
XM_011536548.1:c.1366T>C	XP_011534850.1:p.Phe456Leu
XM_011536549.1:c.1366T>C	XP_011534851.1:p.Phe456Leu
XM_011536550.1:c.1366T>C	XP_011534852.1:p.Phe456Leu
XM_011536551.1:c.1366T>C	XP_011534853.1:p.Phe456Leu
XM_011536552.1:c.1366T>C	XP_011534854.1:p.Phe456Leu
XM_011536553.1:c.*970T>C	XP_011534855.1:n.*970T>C
XM_011536554.1:c.1429T>C	XP_011534856.1:p.Phe477Leu
XM_011536555.1:c.688T>C	XP_011534857.1:p.Phe230Leu
XR_943401.1:n.1863T>C
XR_944039.1:n.144+2225A>G
XM_011536547.2:c.1429T>C	XP_011534849.1:p.Phe477Leu
XM_011536550.2:c.1366T>C	XP_011534852.1:p.Phe456Leu
XM_011536553.2:c.*970T>C	XP_011534855.1:n.*970T>C
XM_011536554.2:c.1429T>C	XP_011534856.1:p.Phe477Leu
XM_017021085.1:c.1366T>C	XP_016876574.1:p.Phe456Leu
XM_024449508.1:c.*50T>C	XP_024305276.1:n.*50T>C
XM_024449509.1:c.1366T>C	XP_024305277.1:p.Phe456Leu
XR_001750189.1:n.2648T>C
XR_943401.2:n.2086T>C
NM_001379180.1:c.*1474T>C MANE Select	NP_001366109.1:n.*1474T>C
NM_004452.4:c.1366T>C	NP_004443.3:p.Phe456Leu