Canonical Allele Identifier: CA128052059
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs979041890
gnomAD v2: 5-135382360-G-A
gnomAD v3: 5-136046671-G-A
gnomAD v4: 5-136046671-G-A
MyVariant Identifiers: chr5:g.135382360G>A (hg19) chr5:g.136046671G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046671G>A , CM000667.2:g.136046671G>A GRCh38
NC_000005.9:g.135382360G>A , CM000667.1:g.135382360G>A GRCh37
NC_000005.8:g.135410259G>A NCBI36
NG_012646.1:g.22777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+176G>A MANE Select ENSP00000416330.2:n.459+176G>A
ENST00000442011.6:c.459+176G>A ENSP00000416330.2:n.459+176G>A
ENST00000506699.5:n.700G>A
ENST00000507018.5:c.437+115G>A
ENST00000515433.1:n.927G>A
NM_000358.2:c.459+176G>A NP_000349.1:n.459+176G>A
NM_000358.3:c.459+176G>A MANE Select NP_000349.1:n.459+176G>A
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