Canonical Allele Identifier: CA408404993
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 2844169
ClinVar RCV Id: RCV003716712
dbSNP Id: rs912809279
gnomAD v2: 20-23028446-C-A
gnomAD v4: 20-23047809-C-A
MyVariant Identifiers: chr20:g.23028446C>A (hg19) chr20:g.23047809C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047809C>A , CM000682.2:g.23047809C>A GRCh38
NC_000020.10:g.23028446C>A , CM000682.1:g.23028446C>A GRCh37
NC_000020.9:g.22976446C>A NCBI36
NG_012027.1:g.6856G>T , LRG_168:g.6856G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1696G>T MANE Select ENSP00000366307.2:p.Val566Leu
ENST00000377103.2:c.1696G>T ENSP00000366307.2:p.Val566Leu
NM_000361.2:c.1696G>T , LRG_168t1:c.1696G>T NP_000352.1:p.Val566Leu
NM_000361.3:c.1696G>T MANE Select NP_000352.1:p.Val566Leu
Search 100 bp 5'
Search 100 bp 3'