Canonical Allele Identifier: CA2355680700
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1984609514
gnomAD v4: 20-23047762-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047762C>T , CM000682.2:g.23047762C>T GRCh38
NC_000020.10:g.23028399C>T , CM000682.1:g.23028399C>T GRCh37
NC_000020.9:g.22976399C>T NCBI36
NG_012027.1:g.6903G>A , LRG_168:g.6903G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*15G>A MANE Select ENSP00000366307.2:n.*15G>A
ENST00000377103.2:c.*15G>A ENSP00000366307.2:n.*15G>A
NM_000361.2:c.*15G>A , LRG_168t1:c.*15G>A NP_000352.1:n.*15G>A
NM_000361.3:c.*15G>A MANE Select NP_000352.1:n.*15G>A
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