Canonical Allele Identifier: CA9787824
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 337897
ClinVar RCV Id: RCV000337785 RCV001618595
dbSNP Id: rs13306849
ExAC: 20:23030199 C / G
gnomAD v2: 20-23030199-C-G
gnomAD v3: 20-23049562-C-G
gnomAD v4: 20-23049562-C-G
MyVariant Identifiers: chr20:g.23030199C>G (hg19) chr20:g.23049562C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049562C>G , CM000682.2:g.23049562C>G GRCh38
NC_000020.10:g.23030199C>G , CM000682.1:g.23030199C>G GRCh37
NC_000020.9:g.22978199C>G NCBI36
NG_012027.1:g.5103G>C , LRG_168:g.5103G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.-58G>C MANE Select ENSP00000366307.2:n.-58G>C
ENST00000377103.2:c.-58G>C ENSP00000366307.2:n.-58G>C
NM_000361.2:c.-58G>C , LRG_168t1:c.-58G>C NP_000352.1:n.-58G>C
NM_000361.3:c.-58G>C MANE Select NP_000352.1:n.-58G>C
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