Canonical Allele Identifier: CA804298805
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1440557759
MyVariant Identifiers: chr5:g.135392676C>G (hg19) chr5:g.136056987C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056987C>G , CM000667.2:g.136056987C>G GRCh38
NC_000005.9:g.135392676C>G , CM000667.1:g.135392676C>G GRCh37
NC_000005.8:g.135420575C>G NCBI36
NG_012646.1:g.33093C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+192C>G MANE Select ENSP00000416330.2:n.1678+192C>G
ENST00000442011.6:c.1678+192C>G ENSP00000416330.2:n.1678+192C>G
ENST00000506699.5:n.2195+192C>G
ENST00000507018.5:c.1656+192C>G
ENST00000509485.5:c.675+192C>G
ENST00000514242.5:n.449+192C>G
ENST00000514554.5:c.830+192C>G
NM_000358.2:c.1678+192C>G NP_000349.1:n.1678+192C>G
NM_000358.3:c.1678+192C>G MANE Select NP_000349.1:n.1678+192C>G
Search 100 bp 5'
Search 100 bp 3'