Canonical Allele Identifier: CA9787503
Gene: THBD HGNC NCBI

Linked Data

dbSNP Id: rs752959310
ExAC: 20:23028411 C / G
gnomAD v2: 20-23028411-C-G
gnomAD v3: 20-23047774-C-G
gnomAD v4: 20-23047774-C-G
MyVariant Identifiers: chr20:g.23028411C>G (hg19) chr20:g.23047774C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23047774C>G , CM000682.2:g.23047774C>G GRCh38
NC_000020.10:g.23028411C>G , CM000682.1:g.23028411C>G GRCh37
NC_000020.9:g.22976411C>G NCBI36
NG_012027.1:g.6891G>C , LRG_168:g.6891G>C

Transcript Alleles

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