Canonical Allele Identifier: CA4885912

Gene: TG

Linked Data

• ClinVar Variation Id: 908418
• ClinVar RCV Id: RCV001158914
• dbSNP Id: rs763672890
• ExAC: 8:134145884 C / T
• gnomAD v2: 8-134145884-C-T
• gnomAD v3: 8-133133640-C-T
• gnomAD v4: 8-133133640-C-T
• COSMIC: COSM5408870
• MyVariant Identifiers: chr8:g.134145884C>T (hg19) ; chr8:g.133133640C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133133640C>T , CM000670.2:g.133133640C>T	GRCh38
NC_000008.10:g.134145884C>T , CM000670.1:g.134145884C>T	GRCh37
NC_000008.9:g.134215066C>T	NCBI36
NG_015832.1:g.271680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220616.9:c.8168C>T MANE Select	ENSP00000220616.4:p.Ser2723Leu
ENST00000220616.8:c.8168C>T	ENSP00000220616.4:p.Ser2723Leu
ENST00000519178.5:c.3534C>T
ENST00000519543.5:c.2567C>T	ENSP00000430430.1:p.Ser856Leu
ENST00000521107.1:c.380C>T	ENSP00000430161.1:p.Ser127Leu
ENST00000522691.1:n.254C>T
ENST00000523756.5:c.4823C>T
NM_003235.4:c.8168C>T	NP_003226.4:p.Ser2723Leu
XM_005251038.3:c.7976C>T	XP_005251095.1:p.Ser2659Leu
XM_006716622.2:c.8105C>T	XP_006716685.1:p.Ser2702Leu
XM_005251038.4:c.7976C>T	XP_005251095.1:p.Ser2659Leu
XM_006716622.3:c.8105C>T	XP_006716685.1:p.Ser2702Leu
XM_017013793.1:c.8102C>T	XP_016869282.1:p.Ser2701Leu
XM_017013794.1:c.8033C>T	XP_016869283.1:p.Ser2678Leu
XM_017013795.1:c.7997C>T	XP_016869284.1:p.Ser2666Leu
XM_017013796.1:c.7949C>T	XP_016869285.1:p.Ser2650Leu
XM_017013797.1:c.7907C>T	XP_016869286.1:p.Ser2636Leu
NM_003235.5:c.8168C>T MANE Select	NP_003226.4:p.Ser2723Leu