Canonical Allele Identifier: CA162652

Gene: TSHR

Linked Data

• ClinVar Variation Id: 135401
• ClinVar RCV Id: RCV000122255 ; RCV001121768 ; RCV000954542 ; RCV001121767 ; RCV004530043
• dbSNP Id: rs139286618
• ExAC: 14:81609331 G / A
• gnomAD v2: 14-81609331-G-A
• gnomAD v3: 14-81142987-G-A
• gnomAD v4: 14-81142987-G-A
• COSMIC: COSM1371343
• MyVariant Identifiers: chr14:g.81609331G>A (hg19) ; chr14:g.81142987G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81142987G>A , CM000676.2:g.81142987G>A	GRCh38
NC_000014.8:g.81609331G>A , CM000676.1:g.81609331G>A	GRCh37
NC_000014.7:g.80679084G>A	NCBI36
NG_009206.1:g.192463G>A , LRG_523:g.192463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.929G>A MANE Select	ENSP00000298171.2:p.Arg310His
ENST00000636454.1:n.847G>A
ENST00000298171.6:c.929G>A	ENSP00000298171.2:p.Arg310His
ENST00000541158.6:c.929G>A	ENSP00000441235.2:p.Arg310His
NM_000369.2:c.929G>A , LRG_523t1:c.929G>A	NP_000360.2:p.Arg310His
XM_005268037.3:c.929G>A	XP_005268094.1:p.Arg310His
XM_011537119.1:c.650G>A	XP_011535421.1:p.Arg217His
XR_245790.3:n.2086+22206C>T
XR_429385.2:n.853+22206C>T
XR_429386.2:n.854+22206C>T
XR_944075.1:n.865+22206C>T
XR_944076.1:n.861+22206C>T
XR_944077.1:n.865+22206C>T
XR_944078.1:n.865+22206C>T
XR_944079.1:n.855+22206C>T
XM_005268037.4:c.929G>A	XP_005268094.1:p.Arg310His
XM_011537119.2:c.650G>A	XP_011535421.1:p.Arg217His
XR_001751021.1:n.2753+22206C>T
XR_001751022.1:n.2753+22206C>T
XR_001751023.1:n.2753+22206C>T
XR_944075.3:n.929+22206C>T
NM_000369.4:c.929G>A	NP_000360.2:p.Arg310His
NM_000369.5:c.929G>A MANE Select	NP_000360.2:p.Arg310His