Canonical Allele Identifier: CA9787513
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 2683531
ClinVar RCV Id: RCV003480351
dbSNP Id: rs201487514
ExAC: 20:23028464 C / T
gnomAD v2: 20-23028464-C-T
gnomAD v3: 20-23047827-C-T
gnomAD v4: 20-23047827-C-T
MyVariant Identifiers: chr20:g.23028464C>T (hg19) chr20:g.23047827C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047827C>T , CM000682.2:g.23047827C>T GRCh38
NC_000020.10:g.23028464C>T , CM000682.1:g.23028464C>T GRCh37
NC_000020.9:g.22976464C>T NCBI36
NG_012027.1:g.6838G>A , LRG_168:g.6838G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1678G>A MANE Select ENSP00000366307.2:p.Glu560Lys
ENST00000377103.2:c.1678G>A ENSP00000366307.2:p.Glu560Lys
NM_000361.2:c.1678G>A , LRG_168t1:c.1678G>A NP_000352.1:p.Glu560Lys
NM_000361.3:c.1678G>A MANE Select NP_000352.1:p.Glu560Lys
Search 100 bp 5'
Search 100 bp 3'