Canonical Allele Identifier: CA128052071
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs528764466
gnomAD v2: 5-135382373-C-T
gnomAD v3: 5-136046684-C-T
gnomAD v4: 5-136046684-C-T
MyVariant Identifiers: chr5:g.135382373C>T (hg19) chr5:g.136046684C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046684C>T , CM000667.2:g.136046684C>T GRCh38
NC_000005.9:g.135382373C>T , CM000667.1:g.135382373C>T GRCh37
NC_000005.8:g.135410272C>T NCBI36
NG_012646.1:g.22790C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.460-167C>T MANE Select ENSP00000416330.2:n.460-167C>T
ENST00000442011.6:c.460-167C>T ENSP00000416330.2:n.460-167C>T
ENST00000506699.5:n.713C>T
ENST00000507018.5:c.437+128C>T
ENST00000515433.1:n.940C>T
NM_000358.2:c.460-167C>T NP_000349.1:n.460-167C>T
NM_000358.3:c.460-167C>T MANE Select NP_000349.1:n.460-167C>T
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