Canonical Allele Identifier: CA9787504
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs763321484
ExAC: 20:23028418 A / C
gnomAD v2: 20-23028418-A-C
gnomAD v4: 20-23047781-A-C
MyVariant Identifiers: chr20:g.23028418A>C (hg19) chr20:g.23047781A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047781A>C , CM000682.2:g.23047781A>C GRCh38
NC_000020.10:g.23028418A>C , CM000682.1:g.23028418A>C GRCh37
NC_000020.9:g.22976418A>C NCBI36
NG_012027.1:g.6884T>G , LRG_168:g.6884T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.1724T>G MANE Select ENSP00000366307.2:p.Leu575Arg
ENST00000377103.2:c.1724T>G ENSP00000366307.2:p.Leu575Arg
NM_000361.2:c.1724T>G , LRG_168t1:c.1724T>G NP_000352.1:p.Leu575Arg
NM_000361.3:c.1724T>G MANE Select NP_000352.1:p.Leu575Arg
Search 100 bp 5'
Search 100 bp 3'