Canonical Allele Identifier: CA408405021
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1189553950
gnomAD v2: 20-23028458-C-T
MyVariant Identifiers: chr20:g.23028458C>T (hg19) chr20:g.23047821C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047821C>T , CM000682.2:g.23047821C>T GRCh38
NC_000020.10:g.23028458C>T , CM000682.1:g.23028458C>T GRCh37
NC_000020.9:g.22976458C>T NCBI36
NG_012027.1:g.6844G>A , LRG_168:g.6844G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1684G>A MANE Select ENSP00000366307.2:p.Val562Met
ENST00000377103.2:c.1684G>A ENSP00000366307.2:p.Val562Met
NM_000361.2:c.1684G>A , LRG_168t1:c.1684G>A NP_000352.1:p.Val562Met
NM_000361.3:c.1684G>A MANE Select NP_000352.1:p.Val562Met
Search 100 bp 5'
Search 100 bp 3'