Canonical Allele Identifier: CA16609580

Gene: ESRRB

Linked Data

• ClinVar Variation Id: 402255
• ClinVar RCV Id: RCV000454210
• dbSNP Id: rs375916159
• gnomAD v4: 14-76482759-G-A
• MyVariant Identifiers: chr14:g.76949102G>A (hg19) ; chr14:g.76482759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76482759G>A , CM000676.2:g.76482759G>A	GRCh38
NC_000014.8:g.76949102G>A , CM000676.1:g.76949102G>A	GRCh37
NC_000014.7:g.76018855G>A	NCBI36
NG_012278.1:g.116413G>A
NG_012278.2:g.116413G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.787G>A	ENSP00000370270.2:p.Gly263Ser
ENST00000505752.6:c.787G>A	ENSP00000423004.1:p.Gly263Ser
ENST00000512784.6:c.802G>A	ENSP00000424992.2:p.Gly268Ser
ENST00000644823.1:c.850G>A MANE Select	ENSP00000493776.1:p.Gly284Ser
ENST00000380887.6:c.787G>A	ENSP00000370270.2:p.Gly263Ser
ENST00000505752.5:c.787G>A	ENSP00000423004.1:p.Gly263Ser
ENST00000509242.5:c.787G>A	ENSP00000422488.1:p.Gly263Ser
ENST00000512784.5:c.802G>A	ENSP00000424992.1:p.Gly268Ser
ENST00000556177.1:c.787G>A	ENSP00000451658.1:p.Gly263Ser
NM_004452.3:c.787G>A	NP_004443.3:p.Gly263Ser
XM_005267404.2:c.850G>A	XP_005267461.1:p.Gly284Ser
XM_011536547.1:c.850G>A	XP_011534849.1:p.Gly284Ser
XM_011536548.1:c.787G>A	XP_011534850.1:p.Gly263Ser
XM_011536549.1:c.787G>A	XP_011534851.1:p.Gly263Ser
XM_011536550.1:c.787G>A	XP_011534852.1:p.Gly263Ser
XM_011536551.1:c.787G>A	XP_011534853.1:p.Gly263Ser
XM_011536552.1:c.787G>A	XP_011534854.1:p.Gly263Ser
XM_011536553.1:c.850G>A	XP_011534855.1:p.Gly284Ser
XM_011536554.1:c.850G>A	XP_011534856.1:p.Gly284Ser
XM_011536555.1:c.109G>A	XP_011534857.1:p.Gly37Ser
XR_943401.1:n.1097G>A
XR_944039.1:n.145-5919C>T
XM_011536547.2:c.850G>A	XP_011534849.1:p.Gly284Ser
XM_011536550.2:c.787G>A	XP_011534852.1:p.Gly263Ser
XM_011536553.2:c.850G>A	XP_011534855.1:p.Gly284Ser
XM_011536554.2:c.850G>A	XP_011534856.1:p.Gly284Ser
XM_017021085.1:c.787G>A	XP_016876574.1:p.Gly263Ser
XM_024449508.1:c.850G>A	XP_024305276.1:p.Gly284Ser
XM_024449509.1:c.787G>A	XP_024305277.1:p.Gly263Ser
XR_001750189.1:n.1320G>A
XR_943401.2:n.1320G>A
NM_001379180.1:c.850G>A MANE Select	NP_001366109.1:p.Gly284Ser
NM_004452.4:c.787G>A	NP_004443.3:p.Gly263Ser