Canonical Allele Identifier: CA1584796790
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1580720103
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055576T>A , CM000667.2:g.136055576T>A GRCh38
NC_000005.9:g.135391265T>A , CM000667.1:g.135391265T>A GRCh37
NC_000005.8:g.135419164T>A NCBI36
NG_012646.1:g.31682T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-104T>A MANE Select ENSP00000416330.2:n.1411-104T>A
ENST00000442011.6:c.1411-104T>A ENSP00000416330.2:n.1411-104T>A
ENST00000506699.5:n.1928-104T>A
ENST00000507018.5:c.1389-104T>A
ENST00000509485.5:c.326-104T>A
ENST00000514242.5:n.78T>A
ENST00000514554.5:c.563-104T>A
NM_000358.2:c.1411-104T>A NP_000349.1:n.1411-104T>A
NM_000358.3:c.1411-104T>A MANE Select NP_000349.1:n.1411-104T>A
Search 100 bp 5'
Search 100 bp 3'