Canonical Allele Identifier: CA446551782
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055784-C-G
MyVariant Identifiers: chr5:g.135391473C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055784C>G , CM000667.2:g.136055784C>G GRCh38
NC_000005.9:g.135391473C>G , CM000667.1:g.135391473C>G GRCh37
NC_000005.8:g.135419372C>G NCBI36
NG_012646.1:g.31890C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1515C>G MANE Select ENSP00000416330.2:p.Val505=
ENST00000442011.6:c.1515C>G ENSP00000416330.2:p.Val505=
ENST00000506699.5:n.2032C>G
ENST00000507018.5:c.1493C>G
ENST00000509485.5:c.430C>G
ENST00000514242.5:n.286C>G
ENST00000514554.5:c.667C>G
NM_000358.2:c.1515C>G NP_000349.1:p.Val505=
NM_000358.3:c.1515C>G MANE Select NP_000349.1:p.Val505=
Search 100 bp 5'
Search 100 bp 3'