Canonical Allele Identifier: CA128058620
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1003603883
gnomAD v4: 5-136055748-G-A
COSMIC: COSM3850268
MyVariant Identifiers: chr5:g.135391437G>A (hg19) chr5:g.136055748G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055748G>A , CM000667.2:g.136055748G>A GRCh38
NC_000005.9:g.135391437G>A , CM000667.1:g.135391437G>A GRCh37
NC_000005.8:g.135419336G>A NCBI36
NG_012646.1:g.31854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1479G>A MANE Select ENSP00000416330.2:p.Thr493=
ENST00000442011.6:c.1479G>A ENSP00000416330.2:p.Thr493=
ENST00000506699.5:n.1996G>A
ENST00000507018.5:c.1457G>A
ENST00000509485.5:c.394G>A
ENST00000514242.5:n.250G>A
ENST00000514554.5:c.631G>A
NM_000358.2:c.1479G>A NP_000349.1:p.Thr493=
NM_000358.3:c.1479G>A MANE Select NP_000349.1:p.Thr493=
Search 100 bp 5'
Search 100 bp 3'