Canonical Allele Identifier: CA128051535
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs971113825
gnomAD v2: 5-135381762-G-C
gnomAD v3: 5-136046073-G-C
gnomAD v4: 5-136046073-G-C
MyVariant Identifiers: chr5:g.135381762G>C (hg19) chr5:g.136046073G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046073G>C , CM000667.2:g.136046073G>C GRCh38
NC_000005.9:g.135381762G>C , CM000667.1:g.135381762G>C GRCh37
NC_000005.8:g.135409661G>C NCBI36
NG_012646.1:g.22179G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-262G>C MANE Select ENSP00000416330.2:n.299-262G>C
ENST00000442011.6:c.299-262G>C ENSP00000416330.2:n.299-262G>C
ENST00000504185.5:n.456-262G>C
ENST00000506699.5:n.364-262G>C
ENST00000507018.5:c.216-262G>C
ENST00000515433.1:n.329G>C
NM_000358.2:c.299-262G>C NP_000349.1:n.299-262G>C
NM_000358.3:c.299-262G>C MANE Select NP_000349.1:n.299-262G>C
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