Canonical Allele Identifier: CA9787799
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs764134497
ExAC: 20:23030046 C / T
gnomAD v2: 20-23030046-C-T
gnomAD v4: 20-23049409-C-T
MyVariant Identifiers: chr20:g.23030046C>T (hg19) chr20:g.23049409C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049409C>T , CM000682.2:g.23049409C>T GRCh38
NC_000020.10:g.23030046C>T , CM000682.1:g.23030046C>T GRCh37
NC_000020.9:g.22978046C>T NCBI36
NG_012027.1:g.5256G>A , LRG_168:g.5256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.96G>A MANE Select ENSP00000366307.2:p.Glu32=
ENST00000377103.2:c.96G>A ENSP00000366307.2:p.Glu32=
NM_000361.2:c.96G>A , LRG_168t1:c.96G>A NP_000352.1:p.Glu32=
NM_000361.3:c.96G>A MANE Select NP_000352.1:p.Glu32=
Search 100 bp 5'
Search 100 bp 3'