Canonical Allele Identifier: CA122571
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 12622
ClinVar RCV Id: RCV000013457 RCV000308514 RCV002054435 RCV003974820
dbSNP Id: rs1799899
ExAC: 3:133475812 G / A
gnomAD v2: 3-133475812-G-A
gnomAD v3: 3-133756968-G-A
gnomAD v4: 3-133756968-G-A
MyVariant Identifiers: chr3:g.133475812G>A (hg19) chr3:g.133756968G>A (hg38)
PubMed: PMID:11703331 PMID:12752114 PMID:16398662
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756968G>A , CM000665.2:g.133756968G>A GRCh38
NC_000003.11:g.133475812G>A , CM000665.1:g.133475812G>A GRCh37
NC_000003.10:g.134958502G>A NCBI36
NG_013080.1:g.15836G>A
NG_013080.2:g.99971G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.829G>A MANE Select ENSP00000385834.3:p.Gly277Ser
ENST00000402696.7:c.829G>A ENSP00000385834.3:p.Gly277Ser
ENST00000485977.1:c.194G>A ENSP00000418716.1:p.Arg65Gln
NM_001063.3:c.829G>A NP_001054.1:p.Gly277Ser
XM_011513100.1:c.829G>A XP_011511402.1:p.Gly277Ser
NM_001354703.1:c.697G>A NP_001341632.1:p.Gly233Ser
NM_001354704.1:c.448G>A NP_001341633.1:p.Gly150Ser
NM_001063.4:c.829G>A MANE Select NP_001054.2:p.Gly277Ser
NM_001354703.2:c.697G>A NP_001341632.2:p.Gly233Ser
NM_001354704.2:c.448G>A NP_001341633.2:p.Gly150Ser
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