Canonical Allele Identifier: CA9787539
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 2976104
ClinVar RCV Id: RCV003836254
dbSNP Id: rs572623850
ExAC: 20:23028625 G / A
gnomAD v2: 20-23028625-G-A
gnomAD v4: 20-23047988-G-A
MyVariant Identifiers: chr20:g.23028625G>A (hg19) chr20:g.23047988G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.1517C>T MANE Select ENSP00000366307.2:p.Thr506Ile
ENST00000377103.2:c.1517C>T ENSP00000366307.2:p.Thr506Ile
NM_000361.2:c.1517C>T , LRG_168t1:c.1517C>T NP_000352.1:p.Thr506Ile
NM_000361.3:c.1517C>T MANE Select NP_000352.1:p.Thr506Ile
Search 100 bp 5'
Search 100 bp 3'