Canonical Allele Identifier: CA3420467
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs371923032
ExAC: 5:135392404 G / T
gnomAD v2: 5-135392404-G-T
gnomAD v4: 5-136056715-G-T
COSMIC: COSM303372
MyVariant Identifiers: chr5:g.135392404G>T (hg19) chr5:g.136056715G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056715G>T , CM000667.2:g.136056715G>T GRCh38
NC_000005.9:g.135392404G>T , CM000667.1:g.135392404G>T GRCh37
NC_000005.8:g.135420303G>T NCBI36
NG_012646.1:g.32821G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1598G>T MANE Select ENSP00000416330.2:p.Arg533Leu
ENST00000442011.6:c.1598G>T ENSP00000416330.2:p.Arg533Leu
ENST00000506699.5:n.2115G>T
ENST00000507018.5:c.1576G>T
ENST00000509485.5:c.595G>T
ENST00000514242.5:n.369G>T
ENST00000514554.5:c.750G>T
NM_000358.2:c.1598G>T NP_000349.1:p.Arg533Leu
NM_000358.3:c.1598G>T MANE Select NP_000349.1:p.Arg533Leu
Search 100 bp 5'
Search 100 bp 3'