Canonical Allele Identifier: CA118257
Gene: TSHR HGNC NCBI

Linked Data

ClinVar Variation Id: 6453
ClinVar RCV Id: RCV000006824
dbSNP Id: rs121908879

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81096641A>G , CM000676.2:g.81096641A>G GRCh38
NC_000014.8:g.81562985A>G , CM000676.1:g.81562985A>G GRCh37
NC_000014.7:g.80632738A>G NCBI36
NG_009206.1:g.146117A>G , LRG_523:g.146117A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000298171.7:c.548A>G MANE Select ENSP00000298171.2:p.Lys183Arg
ENST00000636454.1:n.466A>G
ENST00000298171.6:c.548A>G ENSP00000298171.2:p.Lys183Arg
ENST00000342443.10:c.548A>G ENSP00000340113.6:p.Lys183Arg
ENST00000541158.6:c.548A>G ENSP00000441235.2:p.Lys183Arg
ENST00000554263.5:c.548A>G ENSP00000451202.1:p.Lys183Arg
ENST00000554435.1:c.548A>G ENSP00000450549.1:p.Lys183Arg
NM_000369.2:c.548A>G , LRG_523t1:c.548A>G NP_000360.2:p.Lys183Arg
NM_001018036.2:c.548A>G NP_001018046.1:p.Lys183Arg
NM_001142626.2:c.548A>G NP_001136098.1:p.Lys183Arg
XM_005268037.3:c.548A>G XP_005268094.1:p.Lys183Arg
XM_005268039.1:c.548A>G XP_005268096.1:p.Lys183Arg
XM_006720245.1:c.548A>G XP_006720308.1:p.Lys183Arg
XM_011537119.1:c.269A>G XP_011535421.1:p.Lys90Arg
XR_245790.3:n.2215-2317T>C
XR_944075.1:n.994-2317T>C
XR_944076.1:n.990-2317T>C
XR_944077.1:n.994-2317T>C
XR_944078.1:n.994-2317T>C
XM_005268037.4:c.548A>G XP_005268094.1:p.Lys183Arg
XM_011537119.2:c.269A>G XP_011535421.1:p.Lys90Arg
XR_001751018.2:n.434-2317T>C
XR_001751019.2:n.434-2317T>C
XR_001751020.2:n.434-2317T>C
XR_001751021.1:n.2882-2317T>C
XR_001751022.1:n.2882-2317T>C
XR_001751023.1:n.2882-1075T>C
XR_001751024.2:n.434-2317T>C
XR_944075.3:n.1058-2317T>C
NM_000369.4:c.548A>G NP_000360.2:p.Lys183Arg
NM_001018036.3:c.548A>G NP_001018046.1:p.Lys183Arg
NM_001142626.3:c.548A>G NP_001136098.1:p.Lys183Arg
NM_000369.5:c.548A>G MANE Select NP_000360.2:p.Lys183Arg