Canonical Allele Identifier: CA361039238
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135391373T>G (hg19) chr5:g.136055684T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055684T>G , CM000667.2:g.136055684T>G GRCh38
NC_000005.9:g.135391373T>G , CM000667.1:g.135391373T>G GRCh37
NC_000005.8:g.135419272T>G NCBI36
NG_012646.1:g.31790T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1415T>G MANE Select ENSP00000416330.2:p.Leu472Arg
ENST00000442011.6:c.1415T>G ENSP00000416330.2:p.Leu472Arg
ENST00000506699.5:n.1932T>G
ENST00000507018.5:c.1393T>G
ENST00000509485.5:c.330T>G
ENST00000514242.5:n.186T>G
ENST00000514554.5:c.567T>G
NM_000358.2:c.1415T>G NP_000349.1:p.Leu472Arg
NM_000358.3:c.1415T>G MANE Select NP_000349.1:p.Leu472Arg
Search 100 bp 5'
Search 100 bp 3'