Canonical Allele Identifier: CA128051992
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs374482409
gnomAD v2: 5-135382279-C-G
gnomAD v3: 5-136046590-C-G
gnomAD v4: 5-136046590-C-G
MyVariant Identifiers: chr5:g.135382279C>G (hg19) chr5:g.136046590C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046590C>G , CM000667.2:g.136046590C>G GRCh38
NC_000005.9:g.135382279C>G , CM000667.1:g.135382279C>G GRCh37
NC_000005.8:g.135410178C>G NCBI36
NG_012646.1:g.22696C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+95C>G MANE Select ENSP00000416330.2:n.459+95C>G
ENST00000442011.6:c.459+95C>G ENSP00000416330.2:n.459+95C>G
ENST00000506699.5:n.619C>G
ENST00000507018.5:c.437+34C>G
ENST00000515433.1:n.846C>G
NM_000358.2:c.459+95C>G NP_000349.1:n.459+95C>G
NM_000358.3:c.459+95C>G MANE Select NP_000349.1:n.459+95C>G
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