Canonical Allele Identifier: CA122487

Gene: THRB

Linked Data

• ClinVar Variation Id: 12553
• ClinVar RCV Id: RCV000013380 ; RCV000622278 ; RCV000760097
• dbSNP Id: rs121918693
• gnomAD v4: 3-24127684-C-T
• MyVariant Identifiers: chr3:g.24169175C>T (hg19) ; chr3:g.24127684C>T (hg38)
• PubMed: PMID:1314846 ; PMID:1991834 ; PMID:8040303 ; PMID:8475937 ; PMID:8514853 ; PMID:10566629 ; PMID:11306605 ; PMID:16804041 ; PMID:17327419

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.24127684C>T , CM000665.2:g.24127684C>T	GRCh38
NC_000003.11:g.24169175C>T , CM000665.1:g.24169175C>T	GRCh37
NC_000003.10:g.24144179C>T	NCBI36
NG_009159.1:g.372139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356447.9:c.959G>A	ENSP00000348827.4:p.Arg320His
ENST00000396671.7:c.959G>A	ENSP00000379904.2:p.Arg320His
ENST00000642307.1:c.959G>A	ENSP00000494618.1:p.Arg320His
ENST00000643772.1:c.959G>A	ENSP00000496029.1:p.Arg320His
ENST00000644321.1:c.959G>A	ENSP00000496616.1:p.Arg320His
ENST00000645139.1:c.959G>A	ENSP00000493709.1:p.Arg320His
ENST00000646209.2:c.959G>A MANE Select	ENSP00000496686.2:p.Arg320His
ENST00000646432.1:c.959G>A	ENSP00000496509.1:p.Arg320His
ENST00000646966.1:c.*1588G>A	ENSP00000496095.1:n.*1588G>A
ENST00000280696.9:c.1004G>A	ENSP00000280696.5:p.Arg335His
ENST00000356447.8:c.959G>A	ENSP00000348827.4:p.Arg320His
ENST00000396671.6:c.959G>A	ENSP00000379904.2:p.Arg320His
ENST00000416420.5:c.959G>A	ENSP00000414444.1:p.Arg320His
NM_000461.4:c.959G>A	NP_000452.2:p.Arg320His
NM_001128176.2:c.959G>A	NP_001121648.1:p.Arg320His
NM_001128177.1:c.959G>A	NP_001121649.1:p.Arg320His
NM_001252634.1:c.959G>A	NP_001239563.1:p.Arg320His
XM_005265421.3:c.959G>A	XP_005265478.1:p.Arg320His
XM_005265423.3:c.959G>A	XP_005265480.1:p.Arg320His
XM_005265424.2:c.959G>A	XP_005265481.1:p.Arg320His
XM_006713317.2:c.959G>A	XP_006713380.1:p.Arg320His
XM_006713318.2:c.959G>A	XP_006713381.1:p.Arg320His
XM_011534046.1:c.959G>A	XP_011532348.1:p.Arg320His
XM_011534047.1:c.959G>A	XP_011532349.1:p.Arg320His
XM_011534048.1:c.959G>A	XP_011532350.1:p.Arg320His
XM_011534049.1:c.959G>A	XP_011532351.1:p.Arg320His
XM_011534050.1:c.959G>A	XP_011532352.1:p.Arg320His
XM_011534051.1:c.959G>A	XP_011532353.1:p.Arg320His
XM_011534052.1:c.959G>A	XP_011532354.1:p.Arg320His
XM_011534053.1:c.866G>A	XP_011532355.1:p.Arg289His
NM_001354708.1:c.959G>A	NP_001341637.1:p.Arg320His
NM_001354709.1:c.959G>A	NP_001341638.1:p.Arg320His
NM_001354710.1:c.959G>A	NP_001341639.1:p.Arg320His
NM_001354711.1:c.959G>A	NP_001341640.1:p.Arg320His
NM_001354712.1:c.959G>A	NP_001341641.1:p.Arg320His
NM_001354713.1:c.959G>A	NP_001341642.1:p.Arg320His
NM_001354714.1:c.866G>A	NP_001341643.1:p.Arg289His
NM_001354715.1:c.866G>A	NP_001341644.1:p.Arg289His
XM_006713318.3:c.959G>A	XP_006713381.1:p.Arg320His
XM_011534047.3:c.959G>A	XP_011532349.1:p.Arg320His
XM_011534050.2:c.959G>A	XP_011532352.1:p.Arg320His
XM_011534052.2:c.959G>A	XP_011532354.1:p.Arg320His
XM_011534053.2:c.866G>A	XP_011532355.1:p.Arg289His
XM_017007109.1:c.959G>A	XP_016862598.1:p.Arg320His
XM_017007111.1:c.959G>A	XP_016862600.1:p.Arg320His
XM_017007112.1:c.959G>A	XP_016862601.1:p.Arg320His
XM_017007113.1:c.866G>A	XP_016862602.1:p.Arg289His
XM_024453733.1:c.959G>A	XP_024309501.1:p.Arg320His
XM_024453734.1:c.959G>A	XP_024309502.1:p.Arg320His
XM_024453735.1:c.959G>A	XP_024309503.1:p.Arg320His
XM_024453736.1:c.959G>A	XP_024309504.1:p.Arg320His
XM_024453737.1:c.959G>A	XP_024309505.1:p.Arg320His
XM_024453738.1:c.959G>A	XP_024309506.1:p.Arg320His
NM_000461.5:c.959G>A	NP_000452.2:p.Arg320His
NM_001128176.3:c.959G>A	NP_001121648.1:p.Arg320His
NM_001128177.2:c.959G>A	NP_001121649.1:p.Arg320His
NM_001252634.2:c.959G>A	NP_001239563.1:p.Arg320His
NM_001354708.2:c.959G>A	NP_001341637.1:p.Arg320His
NM_001354709.2:c.959G>A	NP_001341638.1:p.Arg320His
NM_001354710.2:c.959G>A	NP_001341639.1:p.Arg320His
NM_001354711.2:c.959G>A	NP_001341640.1:p.Arg320His
NM_001354712.2:c.959G>A MANE Select	NP_001341641.1:p.Arg320His
NM_001354713.2:c.959G>A	NP_001341642.1:p.Arg320His
NM_001354714.2:c.866G>A	NP_001341643.1:p.Arg289His
NM_001354715.2:c.866G>A	NP_001341644.1:p.Arg289His
NM_001374822.1:c.959G>A	NP_001361751.1:p.Arg320His
NM_001374823.1:c.959G>A	NP_001361752.1:p.Arg320His
NM_001374824.1:c.959G>A	NP_001361753.1:p.Arg320His
NM_001374825.1:c.959G>A	NP_001361754.1:p.Arg320His
NM_001374826.1:c.959G>A	NP_001361755.1:p.Arg320His
NM_001374827.1:c.959G>A	NP_001361756.1:p.Arg320His