Canonical Allele Identifier: CA9787541
Gene: THBD HGNC NCBI

Linked Data

ClinVar Variation Id: 734869
ClinVar RCV Id: RCV000910332 RCV001143810 RCV001818824 RCV002222056
dbSNP Id: rs76135678
ExAC: 20:23028638 C / G
gnomAD v2: 20-23028638-C-G
gnomAD v3: 20-23048001-C-G
gnomAD v4: 20-23048001-C-G
MyVariant Identifiers: chr20:g.23028638C>G (hg19) chr20:g.23048001C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23048001C>G , CM000682.2:g.23048001C>G GRCh38
NC_000020.10:g.23028638C>G , CM000682.1:g.23028638C>G GRCh37
NC_000020.9:g.22976638C>G NCBI36
NG_012027.1:g.6664G>C , LRG_168:g.6664G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1504G>C MANE Select ENSP00000366307.2:p.Gly502Arg
ENST00000377103.2:c.1504G>C ENSP00000366307.2:p.Gly502Arg
NM_000361.2:c.1504G>C , LRG_168t1:c.1504G>C NP_000352.1:p.Gly502Arg
NM_000361.3:c.1504G>C MANE Select NP_000352.1:p.Gly502Arg
Search 100 bp 5'
Search 100 bp 3'