Canonical Allele Identifier: CA3420480
Gene: TGFBI HGNC NCBI

Linked Data

ClinVar Variation Id: 904477
ClinVar RCV Id: RCV001152424
dbSNP Id: rs200219644
ExAC: 5:135392482 T / G
gnomAD v2: 5-135392482-T-G
gnomAD v3: 5-136056793-T-G
gnomAD v4: 5-136056793-T-G
MyVariant Identifiers: chr5:g.135392482T>G (hg19) chr5:g.136056793T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056793T>G , CM000667.2:g.136056793T>G GRCh38
NC_000005.9:g.135392482T>G , CM000667.1:g.135392482T>G GRCh37
NC_000005.8:g.135420381T>G NCBI36
NG_012646.1:g.32899T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1676T>G MANE Select ENSP00000416330.2:p.Leu559Trp
ENST00000442011.6:c.1676T>G ENSP00000416330.2:p.Leu559Trp
ENST00000506699.5:n.2193T>G
ENST00000507018.5:c.1654T>G
ENST00000509485.5:c.673T>G
ENST00000514242.5:n.447T>G
ENST00000514554.5:c.828T>G
NM_000358.2:c.1676T>G NP_000349.1:p.Leu559Trp
NM_000358.3:c.1676T>G MANE Select NP_000349.1:p.Leu559Trp
Search 100 bp 5'
Search 100 bp 3'