Canonical Allele Identifier: CA4882962

Gene: TG

Linked Data

• ClinVar Variation Id: 2971289
• ClinVar RCV Id: RCV003827471
• dbSNP Id: rs755531647
• ExAC: 8:133885447 C / T
• gnomAD v2: 8-133885447-C-T
• gnomAD v3: 8-132873202-C-T
• gnomAD v4: 8-132873202-C-T
• MyVariant Identifiers: chr8:g.133885447C>T (hg19) ; chr8:g.132873202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132873202C>T , CM000670.2:g.132873202C>T	GRCh38
NC_000008.10:g.133885447C>T , CM000670.1:g.133885447C>T	GRCh37
NC_000008.9:g.133954629C>T	NCBI36
NG_015832.1:g.11243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.619C>T MANE Select	ENSP00000220616.4:p.Leu207=
ENST00000220616.8:c.619C>T	ENSP00000220616.4:p.Leu207=
ENST00000523901.1:c.*470C>T	ENSP00000427871.1:n.*470C>T
NM_003235.4:c.619C>T	NP_003226.4:p.Leu207=
XM_005251038.3:c.619C>T	XP_005251095.1:p.Leu207=
XM_005251040.3:c.619C>T	XP_005251097.1:p.Leu207=
XM_005251042.3:c.619C>T	XP_005251099.1:p.Leu207=
XM_005251043.3:c.619C>T	XP_005251100.1:p.Leu207=
XM_006716622.2:c.619C>T	XP_006716685.1:p.Leu207=
XM_005251038.4:c.619C>T	XP_005251095.1:p.Leu207=
XM_005251040.4:c.619C>T	XP_005251097.1:p.Leu207=
XM_005251042.4:c.619C>T	XP_005251099.1:p.Leu207=
XM_006716622.3:c.619C>T	XP_006716685.1:p.Leu207=
XM_017013793.1:c.619C>T	XP_016869282.1:p.Leu207=
XM_017013794.1:c.619C>T	XP_016869283.1:p.Leu207=
XM_017013795.1:c.619C>T	XP_016869284.1:p.Leu207=
XM_017013796.1:c.619C>T	XP_016869285.1:p.Leu207=
XM_017013797.1:c.358C>T	XP_016869286.1:p.Leu120=
XM_017013798.1:c.619C>T	XP_016869287.1:p.Leu207=
XM_017013799.1:c.619C>T	XP_016869288.1:p.Leu207=
XM_017013800.1:c.619C>T	XP_016869289.1:p.Leu207=
NM_003235.5:c.619C>T MANE Select	NP_003226.4:p.Leu207=