Canonical Allele Identifier: CA3419998
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs757933370
ExAC: 5:135382062 G / T
gnomAD v2: 5-135382062-G-T
gnomAD v4: 5-136046373-G-T
MyVariant Identifiers: chr5:g.135382062G>T (hg19) chr5:g.136046373G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046373G>T , CM000667.2:g.136046373G>T GRCh38
NC_000005.9:g.135382062G>T , CM000667.1:g.135382062G>T GRCh37
NC_000005.8:g.135409961G>T NCBI36
NG_012646.1:g.22479G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.337G>T MANE Select ENSP00000416330.2:p.Val113Phe
ENST00000442011.6:c.337G>T ENSP00000416330.2:p.Val113Phe
ENST00000504185.5:n.494G>T
ENST00000506699.5:n.402G>T
ENST00000507018.5:c.254G>T
ENST00000515433.1:n.629G>T
NM_000358.2:c.337G>T NP_000349.1:p.Val113Phe
NM_000358.3:c.337G>T MANE Select NP_000349.1:p.Val113Phe
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