Canonical Allele Identifier: CA3420005
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs749608724
ExAC: 5:135382091 G / A
gnomAD v2: 5-135382091-G-A
gnomAD v4: 5-136046402-G-A
COSMIC: COSM4642938
MyVariant Identifiers: chr5:g.135382091G>A (hg19) chr5:g.136046402G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046402G>A , CM000667.2:g.136046402G>A GRCh38
NC_000005.9:g.135382091G>A , CM000667.1:g.135382091G>A GRCh37
NC_000005.8:g.135409990G>A NCBI36
NG_012646.1:g.22508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.366G>A MANE Select ENSP00000416330.2:p.Thr122=
ENST00000442011.6:c.366G>A ENSP00000416330.2:p.Thr122=
ENST00000504185.5:n.523G>A
ENST00000506699.5:n.431G>A
ENST00000507018.5:c.283G>A
ENST00000515433.1:n.658G>A
NM_000358.2:c.366G>A NP_000349.1:p.Thr122=
NM_000358.3:c.366G>A MANE Select NP_000349.1:p.Thr122=
Search 100 bp 5'
Search 100 bp 3'