Canonical Allele Identifier: CA122636

Gene: TG

Linked Data

• ClinVar Variation Id: 12697
• ClinVar RCV Id: RCV000013534 ; RCV000253912 ; RCV000309189
• dbSNP Id: rs180223
• ExAC: 8:133900252 T / G
• gnomAD v2: 8-133900252-T-G
• gnomAD v3: 8-132888007-T-G
• gnomAD v4: 8-132888007-T-G
• MyVariant Identifiers: chr8:g.133900252T>G (hg19) ; chr8:g.132888007T>G (hg38)
• PubMed: PMID:14657345 ; PMID:15579800

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132888007T>G , CM000670.2:g.132888007T>G	GRCh38
NC_000008.10:g.133900252T>G , CM000670.1:g.133900252T>G	GRCh37
NC_000008.9:g.133969434T>G	NCBI36
NG_015832.1:g.26048T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000220616.9:c.2200T>G MANE Select	ENSP00000220616.4:p.Ser734Ala
ENST00000220616.8:c.2200T>G	ENSP00000220616.4:p.Ser734Ala
NM_003235.4:c.2200T>G	NP_003226.4:p.Ser734Ala
XM_005251038.3:c.2200T>G	XP_005251095.1:p.Ser734Ala
XM_005251040.3:c.2200T>G	XP_005251097.1:p.Ser734Ala
XM_005251042.3:c.2200T>G	XP_005251099.1:p.Ser734Ala
XM_005251043.3:c.2200T>G	XP_005251100.1:p.Ser734Ala
XM_006716622.2:c.2200T>G	XP_006716685.1:p.Ser734Ala
XM_005251038.4:c.2200T>G	XP_005251095.1:p.Ser734Ala
XM_005251040.4:c.2200T>G	XP_005251097.1:p.Ser734Ala
XM_005251042.4:c.2200T>G	XP_005251099.1:p.Ser734Ala
XM_006716622.3:c.2200T>G	XP_006716685.1:p.Ser734Ala
XM_017013793.1:c.2200T>G	XP_016869282.1:p.Ser734Ala
XM_017013794.1:c.2200T>G	XP_016869283.1:p.Ser734Ala
XM_017013795.1:c.2200T>G	XP_016869284.1:p.Ser734Ala
XM_017013796.1:c.2200T>G	XP_016869285.1:p.Ser734Ala
XM_017013797.1:c.1939T>G	XP_016869286.1:p.Ser647Ala
XM_017013798.1:c.2200T>G	XP_016869287.1:p.Ser734Ala
XM_017013799.1:c.2200T>G	XP_016869288.1:p.Ser734Ala
XM_017013800.1:c.2200T>G	XP_016869289.1:p.Ser734Ala
NM_003235.5:c.2200T>G MANE Select	NP_003226.4:p.Ser734Ala