Canonical Allele Identifier: CA9787517
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 1653589
ClinVar RCV Id: RCV002161233
dbSNP Id: rs777258948
ExAC: 20:23028483 C / T
gnomAD v2: 20-23028483-C-T
gnomAD v3: 20-23047846-C-T
gnomAD v4: 20-23047846-C-T
MyVariant Identifiers: chr20:g.23028483C>T (hg19) chr20:g.23047846C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047846C>T , CM000682.2:g.23047846C>T GRCh38
NC_000020.10:g.23028483C>T , CM000682.1:g.23028483C>T GRCh37
NC_000020.9:g.22976483C>T NCBI36
NG_012027.1:g.6819G>A , LRG_168:g.6819G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1659G>A MANE Select ENSP00000366307.2:p.Lys553=
ENST00000377103.2:c.1659G>A ENSP00000366307.2:p.Lys553=
NM_000361.2:c.1659G>A , LRG_168t1:c.1659G>A NP_000352.1:p.Lys553=
NM_000361.3:c.1659G>A MANE Select NP_000352.1:p.Lys553=
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Search 100 bp 3'