Canonical Allele Identifier: CA9787538
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 1554835
ClinVar RCV Id: RCV002192523 RCV002507893
dbSNP Id: rs572623850
ExAC: 20:23028625 G / T
gnomAD v2: 20-23028625-G-T
gnomAD v3: 20-23047988-G-T
gnomAD v4: 20-23047988-G-T
MyVariant Identifiers: chr20:g.23028625G>T (hg19) chr20:g.23047988G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047988G>T , CM000682.2:g.23047988G>T GRCh38
NC_000020.10:g.23028625G>T , CM000682.1:g.23028625G>T GRCh37
NC_000020.9:g.22976625G>T NCBI36
NG_012027.1:g.6677C>A , LRG_168:g.6677C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.1517C>A MANE Select ENSP00000366307.2:p.Thr506Asn
ENST00000377103.2:c.1517C>A ENSP00000366307.2:p.Thr506Asn
NM_000361.2:c.1517C>A , LRG_168t1:c.1517C>A NP_000352.1:p.Thr506Asn
NM_000361.3:c.1517C>A MANE Select NP_000352.1:p.Thr506Asn
Search 100 bp 5'
Search 100 bp 3'