Canonical Allele Identifier: CA2610091
Gene: TRH HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.129977163C>T
GRCh37 chr3:g.129696006C>T
Revel Score:
ENST00000302649 (MANE Select) 0.205
ENST00000507066 0.205
gnomAD v2:
3:129696006 C / T
gnomAD v3:
3:129977163 C / T
gnomAD v4:
chr3-129977163-C-T
Joint Max Group AF 0.00243108 (AFR)
Genomes Max Group AF 0.00211259 (AFR)
Exomes Max Group AF 0.00257237 (AFR)
ClinVar RCV:
RCV003142767
ClinVar Variation:
2437264
dbSNP:
140702654
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129977163C>T , CM000665.2:g.129977163C>T GRCh38
NC_000003.11:g.129696006C>T , CM000665.1:g.129696006C>T GRCh37
NC_000003.10:g.131178696C>T NCBI36
NG_027816.1:g.7893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302649.4:c.676C>T MANE Select ENSP00000303452.3:p.Arg226Trp
ENST00000302649.3:c.676C>T ENSP00000303452.3:p.Arg226Trp
ENST00000507066.1:c.664C>T ENSP00000426522.1:p.Arg222Trp
NM_007117.4:c.676C>T NP_009048.1:p.Arg226Trp
NM_007117.5:c.676C>T MANE Select NP_009048.1:p.Arg226Trp
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