Canonical Allele Identifier: CA9787511
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs779607352
ExAC: 20:23028449 G / T
gnomAD v2: 20-23028449-G-T
gnomAD v4: 20-23047812-G-T
MyVariant Identifiers: chr20:g.23028449G>T (hg19) chr20:g.23047812G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047812G>T , CM000682.2:g.23047812G>T GRCh38
NC_000020.10:g.23028449G>T , CM000682.1:g.23028449G>T GRCh37
NC_000020.9:g.22976449G>T NCBI36
NG_012027.1:g.6853C>A , LRG_168:g.6853C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1693C>A MANE Select ENSP00000366307.2:p.His565Asn
ENST00000377103.2:c.1693C>A ENSP00000366307.2:p.His565Asn
NM_000361.2:c.1693C>A , LRG_168t1:c.1693C>A NP_000352.1:p.His565Asn
NM_000361.3:c.1693C>A MANE Select NP_000352.1:p.His565Asn
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