Canonical Allele Identifier: CA4842763
Gene: TRHR HGNC NCBI

Linked Data

dbSNP Id: rs775618512
ExAC: 8:110099800 T / C
gnomAD v2: 8-110099800-T-C
gnomAD v4: 8-109087571-T-C
MyVariant Identifiers: chr8:g.110099800T>C (hg19) chr8:g.109087571T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.109087571T>C , CM000670.2:g.109087571T>C GRCh38
NC_000008.10:g.110099800T>C , CM000670.1:g.110099800T>C GRCh37
NC_000008.9:g.110168976T>C NCBI36
NG_017161.1:g.5125T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000518632.2:c.59T>C MANE Select ENSP00000430711.2:p.Val20Ala
ENST00000311762.2:c.59T>C ENSP00000309818.2:p.Val20Ala
ENST00000518632.1:c.59T>C ENSP00000430711.1:p.Val20Ala
NM_003301.5:c.59T>C NP_003292.1:p.Val20Ala
XM_011517263.1:c.59T>C XP_011515565.1:p.Val20Ala
XM_011517263.2:c.59T>C XP_011515565.1:p.Val20Ala
NM_003301.7:c.59T>C MANE Select NP_003292.1:p.Val20Ala
Search 100 bp 5'
Search 100 bp 3'