Canonical Allele Identifier: CA487512614
Gene: TSHR HGNC NCBI

Linked Data

dbSNP Id: rs779531801
MyVariant Identifiers: chr14:g.81609890G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81143546G>C , CM000676.2:g.81143546G>C GRCh38
NC_000014.8:g.81609890G>C , CM000676.1:g.81609890G>C GRCh37
NC_000014.7:g.80679643G>C NCBI36
NG_009206.1:g.193022G>C , LRG_523:g.193022G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000298171.7:c.1488G>C MANE Select ENSP00000298171.2:p.Thr496=
ENST00000636454.1:n.1406G>C
ENST00000637447.1:c.391G>C
ENST00000298171.6:c.1488G>C ENSP00000298171.2:p.Thr496=
ENST00000541158.6:c.1488G>C ENSP00000441235.2:p.Thr496=
NM_000369.2:c.1488G>C , LRG_523t1:c.1488G>C NP_000360.2:p.Thr496=
XM_005268037.3:c.1488G>C XP_005268094.1:p.Thr496=
XM_011537119.1:c.1209G>C XP_011535421.1:p.Thr403=
XR_245790.3:n.2086+21647C>G
XR_429385.2:n.853+21647C>G
XR_429386.2:n.854+21647C>G
XR_944075.1:n.865+21647C>G
XR_944076.1:n.861+21647C>G
XR_944077.1:n.865+21647C>G
XR_944078.1:n.865+21647C>G
XR_944079.1:n.855+21647C>G
XM_005268037.4:c.1488G>C XP_005268094.1:p.Thr496=
XM_011537119.2:c.1209G>C XP_011535421.1:p.Thr403=
XR_001751021.1:n.2753+21647C>G
XR_001751022.1:n.2753+21647C>G
XR_001751023.1:n.2753+21647C>G
XR_944075.3:n.929+21647C>G
NM_000369.4:c.1488G>C NP_000360.2:p.Thr496=
NM_000369.5:c.1488G>C MANE Select NP_000360.2:p.Thr496=