Canonical Allele Identifier: CA1016218530
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1984607121
gnomAD v3: 20-23047714-G-C
gnomAD v4: 20-23047714-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047714G>C , CM000682.2:g.23047714G>C GRCh38
NC_000020.10:g.23028351G>C , CM000682.1:g.23028351G>C GRCh37
NC_000020.9:g.22976351G>C NCBI36
NG_012027.1:g.6951C>G , LRG_168:g.6951C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*63C>G MANE Select ENSP00000366307.2:n.*63C>G
ENST00000377103.2:c.*63C>G ENSP00000366307.2:n.*63C>G
NM_000361.2:c.*63C>G , LRG_168t1:c.*63C>G NP_000352.1:n.*63C>G
NM_000361.3:c.*63C>G MANE Select NP_000352.1:n.*63C>G
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