Canonical Allele Identifier: CA119125
Gene: TGFBI HGNC NCBI

Linked Data

ClinVar Variation Id: 7873
ClinVar RCV Id: RCV000008322 RCV002466396
dbSNP Id: rs121909210
gnomAD v2: 5-135382095-C-A
gnomAD v4: 5-136046406-C-A
MyVariant Identifiers: chr5:g.135382095C>A (hg19) chr5:g.136046406C>A (hg38)
PubMed: PMID:11923233
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046406C>A , CM000667.2:g.136046406C>A GRCh38
NC_000005.9:g.135382095C>A , CM000667.1:g.135382095C>A GRCh37
NC_000005.8:g.135409994C>A NCBI36
NG_012646.1:g.22512C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.370C>A MANE Select ENSP00000416330.2:p.Arg124Ser
ENST00000442011.6:c.370C>A ENSP00000416330.2:p.Arg124Ser
ENST00000504185.5:n.527C>A
ENST00000506699.5:n.435C>A
ENST00000507018.5:c.287C>A
ENST00000515433.1:n.662C>A
NM_000358.2:c.370C>A NP_000349.1:p.Arg124Ser
NM_000358.3:c.370C>A MANE Select NP_000349.1:p.Arg124Ser
Search 100 bp 5'
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