Canonical Allele Identifier: CA510161071
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1330658118
gnomAD v2: 20-23029922-G-A
gnomAD v4: 20-23049285-G-A
COSMIC: COSM4733506
MyVariant Identifiers: chr20:g.23029922G>A (hg19) chr20:g.23049285G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23049285G>A , CM000682.2:g.23049285G>A GRCh38
NC_000020.10:g.23029922G>A , CM000682.1:g.23029922G>A GRCh37
NC_000020.9:g.22977922G>A NCBI36
NG_012027.1:g.5380C>T , LRG_168:g.5380C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000377103.3:c.220C>T MANE Select ENSP00000366307.2:p.Leu74=
ENST00000377103.2:c.220C>T ENSP00000366307.2:p.Leu74=
NM_000361.2:c.220C>T , LRG_168t1:c.220C>T NP_000352.1:p.Leu74=
NM_000361.3:c.220C>T MANE Select NP_000352.1:p.Leu74=
Search 100 bp 5'
Search 100 bp 3'