Canonical Allele Identifier: CA10646270

Gene: ESRRB

Linked Data

• ClinVar Variation Id: 314500
• ClinVar RCV Id: RCV000336617
• dbSNP Id: rs753110550
• gnomAD v3: 14-76501411-C-T
• gnomAD v4: 14-76501411-C-T
• MyVariant Identifiers: chr14:g.76967754C>T (hg19) ; chr14:g.76501411C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76501411C>T , CM000676.2:g.76501411C>T	GRCh38
NC_000014.8:g.76967754C>T , CM000676.1:g.76967754C>T	GRCh37
NC_000014.7:g.76037507C>T	NCBI36
NG_012278.1:g.135065C>T
NG_012278.2:g.135065C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380887.7:c.*690C>T	ENSP00000370270.2:n.*690C>T
ENST00000644823.1:c.*2953C>T MANE Select	ENSP00000493776.1:n.*2953C>T
ENST00000380887.6:c.*690C>T	ENSP00000370270.2:n.*690C>T
ENST00000509242.5:c.*690C>T	ENSP00000422488.1:n.*690C>T
ENST00000611036.1:n.1766C>T
NM_004452.3:c.*690C>T	NP_004443.3:n.*690C>T
XM_011536547.1:c.*1186C>T	XP_011534849.1:n.*1186C>T
XM_011536548.1:c.*1186C>T	XP_011534850.1:n.*1186C>T
XM_011536549.1:c.*1186C>T	XP_011534851.1:n.*1186C>T
XM_011536550.1:c.*1186C>T	XP_011534852.1:n.*1186C>T
XM_011536551.1:c.*1186C>T	XP_011534853.1:n.*1186C>T
XM_011536552.1:c.*1186C>T	XP_011534854.1:n.*1186C>T
XM_011536553.1:c.*2449C>T	XP_011534855.1:n.*2449C>T
XM_011536554.1:c.*690C>T	XP_011534856.1:n.*690C>T
XM_011536555.1:c.*1186C>T	XP_011534857.1:n.*1186C>T
XR_943401.1:n.2714C>T
XR_944039.1:n.144+746G>A
XM_011536547.2:c.*1186C>T	XP_011534849.1:n.*1186C>T
XM_011536550.2:c.*1186C>T	XP_011534852.1:n.*1186C>T
XM_011536553.2:c.*2449C>T	XP_011534855.1:n.*2449C>T
XM_011536554.2:c.*690C>T	XP_011534856.1:n.*690C>T
XM_017021085.1:c.*1186C>T	XP_016876574.1:n.*1186C>T
XM_024449508.1:c.*1529C>T	XP_024305276.1:n.*1529C>T
XM_024449509.1:c.*690C>T	XP_024305277.1:n.*690C>T
XR_943401.2:n.2937C>T
NM_001379180.1:c.*2953C>T MANE Select	NP_001366109.1:n.*2953C>T
NM_004452.4:c.*690C>T	NP_004443.3:n.*690C>T