Canonical Allele Identifier: CA122565
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 12618
ClinVar RCV Id: RCV000013453
dbSNP Id: rs121918678
MyVariant Identifiers: chr3:g.133495956A>G (hg19) chr3:g.133777112A>G (hg38)
PubMed: PMID:9803271
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777112A>G , CM000665.2:g.133777112A>G GRCh38
NC_000003.11:g.133495956A>G , CM000665.1:g.133495956A>G GRCh37
NC_000003.10:g.134978646A>G NCBI36
NG_013080.1:g.35980A>G
NG_013080.2:g.120115A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1936A>G MANE Select ENSP00000385834.3:p.Lys646Glu
ENST00000402696.7:c.1936A>G ENSP00000385834.3:p.Lys646Glu
ENST00000461695.1:c.667A>G
ENST00000467842.1:n.2930A>G
NM_001063.3:c.1936A>G NP_001054.1:p.Lys646Glu
XM_011513100.1:c.1936A>G XP_011511402.1:p.Lys646Glu
NM_001354703.1:c.1804A>G NP_001341632.1:p.Lys602Glu
NM_001354704.1:c.1555A>G NP_001341633.1:p.Lys519Glu
NM_001063.4:c.1936A>G MANE Select NP_001054.2:p.Lys646Glu
NM_001354703.2:c.1804A>G NP_001341632.2:p.Lys602Glu
NM_001354704.2:c.1555A>G NP_001341633.2:p.Lys519Glu
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