Canonical Allele Identifier: CA804305554
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1227426238
MyVariant Identifiers: chr5:g.135382020G>T (hg19) chr5:g.136046331G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046331G>T , CM000667.2:g.136046331G>T GRCh38
NC_000005.9:g.135382020G>T , CM000667.1:g.135382020G>T GRCh37
NC_000005.8:g.135409919G>T NCBI36
NG_012646.1:g.22437G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.299-4G>T MANE Select ENSP00000416330.2:n.299-4G>T
ENST00000442011.6:c.299-4G>T ENSP00000416330.2:n.299-4G>T
ENST00000504185.5:n.456-4G>T
ENST00000506699.5:n.364-4G>T
ENST00000507018.5:c.216-4G>T
ENST00000515433.1:n.587G>T
NM_000358.2:c.299-4G>T NP_000349.1:n.299-4G>T
NM_000358.3:c.299-4G>T MANE Select NP_000349.1:n.299-4G>T
Search 100 bp 5'
Search 100 bp 3'