Canonical Allele Identifier: CA1016218568
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1984608508
gnomAD v3: 20-23047745-T-C
gnomAD v4: 20-23047745-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047745T>C , CM000682.2:g.23047745T>C GRCh38
NC_000020.10:g.23028382T>C , CM000682.1:g.23028382T>C GRCh37
NC_000020.9:g.22976382T>C NCBI36
NG_012027.1:g.6920A>G , LRG_168:g.6920A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*32A>G MANE Select ENSP00000366307.2:n.*32A>G
ENST00000377103.2:c.*32A>G ENSP00000366307.2:n.*32A>G
NM_000361.2:c.*32A>G , LRG_168t1:c.*32A>G NP_000352.1:n.*32A>G
NM_000361.3:c.*32A>G MANE Select NP_000352.1:n.*32A>G
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