Canonical Allele Identifier: CA128051941
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs373028294
gnomAD v2: 5-135382211-G-A
gnomAD v3: 5-136046522-G-A
gnomAD v4: 5-136046522-G-A
MyVariant Identifiers: chr5:g.135382211G>A (hg19) chr5:g.136046522G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046522G>A , CM000667.2:g.136046522G>A GRCh38
NC_000005.9:g.135382211G>A , CM000667.1:g.135382211G>A GRCh37
NC_000005.8:g.135410110G>A NCBI36
NG_012646.1:g.22628G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+27G>A MANE Select ENSP00000416330.2:n.459+27G>A
ENST00000442011.6:c.459+27G>A ENSP00000416330.2:n.459+27G>A
ENST00000506699.5:n.551G>A
ENST00000507018.5:c.403G>A
ENST00000515433.1:n.778G>A
NM_000358.2:c.459+27G>A NP_000349.1:n.459+27G>A
NM_000358.3:c.459+27G>A MANE Select NP_000349.1:n.459+27G>A
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