Canonical Allele Identifier: CA118242
Gene: TSHR HGNC NCBI

Linked Data

ClinVar Variation Id: 6448
ClinVar RCV Id: RCV000006818
dbSNP Id: rs121908874
MyVariant Identifiers: chr14:g.81609928T>C (hg19) chr14:g.81143584T>C (hg38)
PubMed: PMID:7124278 PMID:7920658
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81143584T>C , CM000676.2:g.81143584T>C GRCh38
NC_000014.8:g.81609928T>C , CM000676.1:g.81609928T>C GRCh37
NC_000014.7:g.80679681T>C NCBI36
NG_009206.1:g.193060T>C , LRG_523:g.193060T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298171.7:c.1526T>C MANE Select ENSP00000298171.2:p.Val509Ala
ENST00000636454.1:n.1444T>C
ENST00000637447.1:c.429T>C
ENST00000298171.6:c.1526T>C ENSP00000298171.2:p.Val509Ala
ENST00000541158.6:c.1526T>C ENSP00000441235.2:p.Val509Ala
NM_000369.2:c.1526T>C , LRG_523t1:c.1526T>C NP_000360.2:p.Val509Ala
XM_005268037.3:c.1526T>C XP_005268094.1:p.Val509Ala
XM_011537119.1:c.1247T>C XP_011535421.1:p.Val416Ala
XR_245790.3:n.2086+21609A>G
XR_429385.2:n.853+21609A>G
XR_429386.2:n.854+21609A>G
XR_944075.1:n.865+21609A>G
XR_944076.1:n.861+21609A>G
XR_944077.1:n.865+21609A>G
XR_944078.1:n.865+21609A>G
XR_944079.1:n.855+21609A>G
XM_005268037.4:c.1526T>C XP_005268094.1:p.Val509Ala
XM_011537119.2:c.1247T>C XP_011535421.1:p.Val416Ala
XR_001751021.1:n.2753+21609A>G
XR_001751022.1:n.2753+21609A>G
XR_001751023.1:n.2753+21609A>G
XR_944075.3:n.929+21609A>G
NM_000369.4:c.1526T>C NP_000360.2:p.Val509Ala
NM_000369.5:c.1526T>C MANE Select NP_000360.2:p.Val509Ala
Search 100 bp 5'
Search 100 bp 3'