Canonical Allele Identifier: CA9787529
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 1650615
ClinVar RCV Id: RCV002144531
dbSNP Id: rs753355387
ExAC: 20:23028594 G / A
gnomAD v2: 20-23028594-G-A
gnomAD v4: 20-23047957-G-A
MyVariant Identifiers: chr20:g.23028594G>A (hg19) chr20:g.23047957G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047957G>A , CM000682.2:g.23047957G>A GRCh38
NC_000020.10:g.23028594G>A , CM000682.1:g.23028594G>A GRCh37
NC_000020.9:g.22976594G>A NCBI36
NG_012027.1:g.6708C>T , LRG_168:g.6708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1548C>T MANE Select ENSP00000366307.2:p.Gly516=
ENST00000377103.2:c.1548C>T ENSP00000366307.2:p.Gly516=
NM_000361.2:c.1548C>T , LRG_168t1:c.1548C>T NP_000352.1:p.Gly516=
NM_000361.3:c.1548C>T MANE Select NP_000352.1:p.Gly516=
Search 100 bp 5'
Search 100 bp 3'