Canonical Allele Identifier: CA9787515
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs747367882
ExAC: 20:23028471 A / T
gnomAD v2: 20-23028471-A-T
gnomAD v4: 20-23047834-A-T
MyVariant Identifiers: chr20:g.23028471A>T (hg19) chr20:g.23047834A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047834A>T , CM000682.2:g.23047834A>T GRCh38
NC_000020.10:g.23028471A>T , CM000682.1:g.23028471A>T GRCh37
NC_000020.9:g.22976471A>T NCBI36
NG_012027.1:g.6831T>A , LRG_168:g.6831T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1671T>A MANE Select ENSP00000366307.2:p.Pro557=
ENST00000377103.2:c.1671T>A ENSP00000366307.2:p.Pro557=
NM_000361.2:c.1671T>A , LRG_168t1:c.1671T>A NP_000352.1:p.Pro557=
NM_000361.3:c.1671T>A MANE Select NP_000352.1:p.Pro557=
Search 100 bp 5'
Search 100 bp 3'