Canonical Allele Identifier: CA128052072
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs547269711
gnomAD v2: 5-135382374-G-A
gnomAD v3: 5-136046685-G-A
gnomAD v4: 5-136046685-G-A
MyVariant Identifiers: chr5:g.135382374G>A (hg19) chr5:g.136046685G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046685G>A , CM000667.2:g.136046685G>A GRCh38
NC_000005.9:g.135382374G>A , CM000667.1:g.135382374G>A GRCh37
NC_000005.8:g.135410273G>A NCBI36
NG_012646.1:g.22791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.460-166G>A MANE Select ENSP00000416330.2:n.460-166G>A
ENST00000442011.6:c.460-166G>A ENSP00000416330.2:n.460-166G>A
ENST00000506699.5:n.714G>A
ENST00000507018.5:c.437+129G>A
ENST00000515433.1:n.941G>A
NM_000358.2:c.460-166G>A NP_000349.1:n.460-166G>A
NM_000358.3:c.460-166G>A MANE Select NP_000349.1:n.460-166G>A
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