Canonical Allele Identifier: CA408405270
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs1243541360
gnomAD v2: 20-23028577-G-A
gnomAD v3: 20-23047940-G-A
gnomAD v4: 20-23047940-G-A
COSMIC: COSM3544687
MyVariant Identifiers: chr20:g.23028577G>A (hg19) chr20:g.23047940G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047940G>A , CM000682.2:g.23047940G>A GRCh38
NC_000020.10:g.23028577G>A , CM000682.1:g.23028577G>A GRCh37
NC_000020.9:g.22976577G>A NCBI36
NG_012027.1:g.6725C>T , LRG_168:g.6725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1565C>T MANE Select ENSP00000366307.2:p.Ser522Phe
ENST00000377103.2:c.1565C>T ENSP00000366307.2:p.Ser522Phe
NM_000361.2:c.1565C>T , LRG_168t1:c.1565C>T NP_000352.1:p.Ser522Phe
NM_000361.3:c.1565C>T MANE Select NP_000352.1:p.Ser522Phe
Search 100 bp 5'
Search 100 bp 3'