Canonical Allele Identifier: CA122571
Gene: TF HGNC NCBI

Linked Data

ClinVar Variation Id: 12622
dbSNP Id: rs1799899

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