Canonical Allele Identifier: CA15825385
Gene: TSHR HGNC NCBI
dbSNP:
1990595
gnomAD v2:
14:81572386 A / C
gnomAD v3:
14:81106042 A / C
gnomAD v4:
chr14-81106042-A-C
Joint Max Group AF 0.70625313 (SAS)
Genomes Max Group AF 0.70625313 (SAS)
MyVariant.info:
GRCh38 chr14:g.81106042A>C
GRCh37 chr14:g.81572386A>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.81106042A>C , CM000676.2:g.81106042A>C GRCh38
NC_000014.8:g.81572386A>C , CM000676.1:g.81572386A>C GRCh37
NC_000014.7:g.80642139A>C NCBI36
NG_009206.1:g.155518A>C , LRG_523:g.155518A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298171.7:c.615-2333A>C MANE Select ENSP00000298171.2:n.615-2333A>C
ENST00000636454.1:n.533-2333A>C
ENST00000298171.6:c.615-2333A>C ENSP00000298171.2:n.615-2333A>C
ENST00000342443.10:c.615-2333A>C ENSP00000340113.6:n.615-2333A>C
ENST00000541158.6:c.615-2333A>C ENSP00000441235.2:n.615-2333A>C
ENST00000554263.5:c.615-2333A>C ENSP00000451202.1:n.615-2333A>C
ENST00000554435.1:c.615-2333A>C ENSP00000450549.1:n.615-2333A>C
NM_000369.2:c.615-2333A>C , LRG_523t1:c.615-2333A>C NP_000360.2:n.615-2333A>C
NM_001018036.2:c.615-2333A>C NP_001018046.1:n.615-2333A>C
NM_001142626.2:c.615-2333A>C NP_001136098.1:n.615-2333A>C
XM_005268037.3:c.615-2333A>C XP_005268094.1:n.615-2333A>C
XM_005268039.1:c.615-2333A>C XP_005268096.1:n.615-2333A>C
XM_006720245.1:c.615-2333A>C XP_006720308.1:n.615-2333A>C
XM_011537119.1:c.336-2333A>C XP_011535421.1:n.336-2333A>C
XR_245790.3:n.2087-6516T>G
XR_429385.2:n.1002-362T>G
XR_429386.2:n.961-362T>G
XR_944075.1:n.866-6516T>G
XR_944076.1:n.862-6516T>G
XR_944077.1:n.866-6516T>G
XR_944078.1:n.866-6516T>G
XM_005268037.4:c.615-2333A>C XP_005268094.1:n.615-2333A>C
XM_011537119.2:c.336-2333A>C XP_011535421.1:n.336-2333A>C
XR_001751021.1:n.2754-6516T>G
XR_001751022.1:n.2754-6516T>G
XR_001751023.1:n.2754-6516T>G
XR_944075.3:n.930-6516T>G
NM_000369.4:c.615-2333A>C NP_000360.2:n.615-2333A>C
NM_001018036.3:c.615-2333A>C NP_001018046.1:n.615-2333A>C
NM_001142626.3:c.615-2333A>C NP_001136098.1:n.615-2333A>C
NM_000369.5:c.615-2333A>C MANE Select NP_000360.2:n.615-2333A>C
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