Canonical Allele Identifier: CA804298836
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1468592535
MyVariant Identifiers: chr5:g.135392721A>G (hg19) chr5:g.136057032A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057032A>G , CM000667.2:g.136057032A>G GRCh38
NC_000005.9:g.135392721A>G , CM000667.1:g.135392721A>G GRCh37
NC_000005.8:g.135420620A>G NCBI36
NG_012646.1:g.33138A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+237A>G MANE Select ENSP00000416330.2:n.1678+237A>G
ENST00000442011.6:c.1678+237A>G ENSP00000416330.2:n.1678+237A>G
ENST00000506699.5:n.2195+237A>G
ENST00000507018.5:c.1656+237A>G
ENST00000509485.5:c.675+237A>G
ENST00000514242.5:n.449+237A>G
ENST00000514554.5:c.830+237A>G
NM_000358.2:c.1678+237A>G NP_000349.1:n.1678+237A>G
NM_000358.3:c.1678+237A>G MANE Select NP_000349.1:n.1678+237A>G
Search 100 bp 5'
Search 100 bp 3'