Canonical Allele Identifier: CA10652404
Gene: THBD HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.23047500C>T
GRCh37 chr20:g.23028137C>T
gnomAD v2:
20:23028137 C / T
gnomAD v3:
20:23047500 C / T
gnomAD v4:
chr20-23047500-C-T
Joint Max Group AF 0.09903053 (EAS)
Genomes Max Group AF 0.09790705 (EAS)
Exomes Max Group AF 0.0981672 (EAS)
ClinVar RCV:
RCV000289808
ClinVar Variation:
337875
dbSNP:
3176134
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047500C>T , CM000682.2:g.23047500C>T GRCh38
NC_000020.10:g.23028137C>T , CM000682.1:g.23028137C>T GRCh37
NC_000020.9:g.22976137C>T NCBI36
NG_012027.1:g.7165G>A , LRG_168:g.7165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377103.3:c.*277G>A MANE Select ENSP00000366307.2:n.*277G>A
ENST00000377103.2:c.*277G>A ENSP00000366307.2:n.*277G>A
NM_000361.2:c.*277G>A , LRG_168t1:c.*277G>A NP_000352.1:n.*277G>A
NM_000361.3:c.*277G>A MANE Select NP_000352.1:n.*277G>A
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