Canonical Allele Identifier: CA210696

Gene: TG

Linked Data

• ClinVar Variation Id: 12690
• ClinVar RCV Id: RCV000013527 ; RCV000880032 ; RCV001002732
• dbSNP Id: rs2229843
• ExAC: 8:133900662 G / T
• gnomAD v2: 8-133900662-G-T
• gnomAD v3: 8-132888417-G-T
• gnomAD v4: 8-132888417-G-T
• MyVariant Identifiers: chr8:g.133900662G>T (hg19) ; chr8:g.132888417G>T (hg38)
• PubMed: PMID:8094490 ; PMID:16187910

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132888417G>T , CM000670.2:g.132888417G>T	GRCh38
NC_000008.10:g.133900662G>T , CM000670.1:g.133900662G>T	GRCh37
NC_000008.9:g.133969844G>T	NCBI36
NG_015832.1:g.26458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.2610G>T MANE Select	ENSP00000220616.4:p.Gln870His
ENST00000220616.8:c.2610G>T	ENSP00000220616.4:p.Gln870His
NM_003235.4:c.2610G>T	NP_003226.4:p.Gln870His
XM_005251038.3:c.2610G>T	XP_005251095.1:p.Gln870His
XM_005251040.3:c.2610G>T	XP_005251097.1:p.Gln870His
XM_005251042.3:c.2610G>T	XP_005251099.1:p.Gln870His
XM_005251043.3:c.2610G>T	XP_005251100.1:p.Gln870His
XM_006716622.2:c.2610G>T	XP_006716685.1:p.Gln870His
XM_005251038.4:c.2610G>T	XP_005251095.1:p.Gln870His
XM_005251040.4:c.2610G>T	XP_005251097.1:p.Gln870His
XM_005251042.4:c.2610G>T	XP_005251099.1:p.Gln870His
XM_006716622.3:c.2610G>T	XP_006716685.1:p.Gln870His
XM_017013793.1:c.2610G>T	XP_016869282.1:p.Gln870His
XM_017013794.1:c.2610G>T	XP_016869283.1:p.Gln870His
XM_017013795.1:c.2610G>T	XP_016869284.1:p.Gln870His
XM_017013796.1:c.2610G>T	XP_016869285.1:p.Gln870His
XM_017013797.1:c.2349G>T	XP_016869286.1:p.Gln783His
XM_017013798.1:c.2610G>T	XP_016869287.1:p.Gln870His
XM_017013799.1:c.2610G>T	XP_016869288.1:p.Gln870His
XM_017013800.1:c.2610G>T	XP_016869289.1:p.Gln870His
NM_003235.5:c.2610G>T MANE Select	NP_003226.4:p.Gln870His