Canonical Allele Identifier: CA9787793
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 1045160
ClinVar RCV Id: RCV001349525
dbSNP Id: rs766710327
ExAC: 20:23030023 G / A
gnomAD v2: 20-23030023-G-A
gnomAD v3: 20-23049386-G-A
gnomAD v4: 20-23049386-G-A
MyVariant Identifiers: chr20:g.23030023G>A (hg19) chr20:g.23049386G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049386G>A , CM000682.2:g.23049386G>A GRCh38
NC_000020.10:g.23030023G>A , CM000682.1:g.23030023G>A GRCh37
NC_000020.9:g.22978023G>A NCBI36
NG_012027.1:g.5279C>T , LRG_168:g.5279C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.119C>T MANE Select ENSP00000366307.2:p.Pro40Leu
ENST00000377103.2:c.119C>T ENSP00000366307.2:p.Pro40Leu
NM_000361.2:c.119C>T , LRG_168t1:c.119C>T NP_000352.1:p.Pro40Leu
NM_000361.3:c.119C>T MANE Select NP_000352.1:p.Pro40Leu
Search 100 bp 5'
Search 100 bp 3'