Canonical Allele Identifier: CA8626242
Gene: TBX21 HGNC NCBI

Linked Data

ClinVar Variation Id: 2363929
ClinVar RCV Id: RCV004204112
dbSNP Id: rs762834320
ExAC: 17:45811061 C / T
gnomAD v2: 17-45811061-C-T
gnomAD v3: 17-47733695-C-T
gnomAD v4: 17-47733695-C-T
MyVariant Identifiers: chr17:g.45811061C>T (hg19) chr17:g.47733695C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733695C>T , CM000679.2:g.47733695C>T GRCh38
NC_000017.10:g.45811061C>T , CM000679.1:g.45811061C>T GRCh37
NC_000017.9:g.43166060C>T NCBI36
NG_012166.1:g.5452C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.241C>T MANE Select ENSP00000177694.1:p.Pro81Ser
ENST00000177694.1:c.241C>T ENSP00000177694.1:p.Pro81Ser
ENST00000581328.1:n.271C>T
NM_013351.1:c.241C>T NP_037483.1:p.Pro81Ser
XM_011524698.1:c.241C>T XP_011523000.1:p.Pro81Ser
NM_013351.2:c.241C>T MANE Select NP_037483.1:p.Pro81Ser
Search 100 bp 5'
Search 100 bp 3'