Canonical Allele Identifier: CA446551087
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1340193028
gnomAD v2: 5-135382184-T-C
gnomAD v4: 5-136046495-T-C
MyVariant Identifiers: chr5:g.135382184T>C (hg19) chr5:g.136046495T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046495T>C , CM000667.2:g.136046495T>C GRCh38
NC_000005.9:g.135382184T>C , CM000667.1:g.135382184T>C GRCh37
NC_000005.8:g.135410083T>C NCBI36
NG_012646.1:g.22601T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459T>C MANE Select ENSP00000416330.2:p.Ala153=
ENST00000442011.6:c.459T>C ENSP00000416330.2:p.Ala153=
ENST00000506699.5:n.524T>C
ENST00000507018.5:c.376T>C
ENST00000515433.1:n.751T>C
NM_000358.2:c.459T>C NP_000349.1:p.Ala153=
NM_000358.3:c.459T>C MANE Select NP_000349.1:p.Ala153=
Search 100 bp 5'
Search 100 bp 3'