Canonical Allele Identifier: CA615081481

Gene: ESRRB

Linked Data

• dbSNP Id: rs753110550
• gnomAD v2: 14-76967754-C-G
• gnomAD v3: 14-76501411-C-G
• gnomAD v4: 14-76501411-C-G
• MyVariant Identifiers: chr14:g.76967754C>G (hg19) ; chr14:g.76501411C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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