Canonical Allele Identifier: CA239256

Gene: ESRRB

Linked Data

• ClinVar Variation Id: 193673
• ClinVar RCV Id: RCV000173802 ; RCV000305650
• dbSNP Id: rs371116651
• ExAC: 14:76966405 G / A
• gnomAD v2: 14-76966405-G-A
• gnomAD v3: 14-76500062-G-A
• gnomAD v4: 14-76500062-G-A
• MyVariant Identifiers: chr14:g.76966405G>A (hg19) ; chr14:g.76500062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76500062G>A , CM000676.2:g.76500062G>A	GRCh38
NC_000014.8:g.76966405G>A , CM000676.1:g.76966405G>A	GRCh37
NC_000014.7:g.76036158G>A	NCBI36
NG_012278.1:g.133716G>A
NG_012278.2:g.133716G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.1496G>A	ENSP00000370270.2:p.Gly499Asp
ENST00000505752.6:c.*180G>A	ENSP00000423004.1:n.*180G>A
ENST00000644823.1:c.*1604G>A MANE Select	ENSP00000493776.1:n.*1604G>A
ENST00000380887.6:c.1496G>A	ENSP00000370270.2:p.Gly499Asp
ENST00000505752.5:c.*180G>A	ENSP00000423004.1:n.*180G>A
ENST00000509242.5:c.1496G>A	ENSP00000422488.1:p.Gly499Asp
ENST00000512784.5:c.1511G>A	ENSP00000424992.1:p.Gly504Asp
ENST00000611036.1:n.417G>A
NM_004452.3:c.1496G>A	NP_004443.3:p.Gly499Asp
XM_011536547.1:c.1559G>A	XP_011534849.1:p.Gly520Asp
XM_011536548.1:c.1496G>A	XP_011534850.1:p.Gly499Asp
XM_011536549.1:c.1496G>A	XP_011534851.1:p.Gly499Asp
XM_011536550.1:c.1496G>A	XP_011534852.1:p.Gly499Asp
XM_011536551.1:c.1496G>A	XP_011534853.1:p.Gly499Asp
XM_011536552.1:c.1496G>A	XP_011534854.1:p.Gly499Asp
XM_011536553.1:c.*1100G>A	XP_011534855.1:n.*1100G>A
XM_011536554.1:c.1559G>A	XP_011534856.1:p.Gly520Asp
XM_011536555.1:c.818G>A	XP_011534857.1:p.Gly273Asp
XR_943401.1:n.1993G>A
XR_944039.1:n.144+2095C>T
XM_011536547.2:c.1559G>A	XP_011534849.1:p.Gly520Asp
XM_011536550.2:c.1496G>A	XP_011534852.1:p.Gly499Asp
XM_011536553.2:c.*1100G>A	XP_011534855.1:n.*1100G>A
XM_011536554.2:c.1559G>A	XP_011534856.1:p.Gly520Asp
XM_017021085.1:c.1496G>A	XP_016876574.1:p.Gly499Asp
XM_024449508.1:c.*180G>A	XP_024305276.1:n.*180G>A
XM_024449509.1:c.1496G>A	XP_024305277.1:p.Gly499Asp
XR_943401.2:n.2216G>A
NM_001379180.1:c.*1604G>A MANE Select	NP_001366109.1:n.*1604G>A
NM_004452.4:c.1496G>A	NP_004443.3:p.Gly499Asp