Canonical Allele Identifier: CA446551080
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046486-C-T
COSMIC: COSM5544287 COSM5544288
MyVariant Identifiers: chr5:g.135382175C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046486C>T , CM000667.2:g.136046486C>T GRCh38
NC_000005.9:g.135382175C>T , CM000667.1:g.135382175C>T GRCh37
NC_000005.8:g.135410074C>T NCBI36
NG_012646.1:g.22592C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.450C>T MANE Select ENSP00000416330.2:p.Ser150=
ENST00000442011.6:c.450C>T ENSP00000416330.2:p.Ser150=
ENST00000506699.5:n.515C>T
ENST00000507018.5:c.367C>T
ENST00000515433.1:n.742C>T
NM_000358.2:c.450C>T NP_000349.1:p.Ser150=
NM_000358.3:c.450C>T MANE Select NP_000349.1:p.Ser150=
Search 100 bp 5'
Search 100 bp 3'