Canonical Allele Identifier: CA3420049
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs756986715
ExAC: 5:135382240 C / T
gnomAD v2: 5-135382240-C-T
gnomAD v3: 5-136046551-C-T
gnomAD v4: 5-136046551-C-T
MyVariant Identifiers: chr5:g.135382240C>T (hg19) chr5:g.136046551C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046551C>T , CM000667.2:g.136046551C>T GRCh38
NC_000005.9:g.135382240C>T , CM000667.1:g.135382240C>T GRCh37
NC_000005.8:g.135410139C>T NCBI36
NG_012646.1:g.22657C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+56C>T MANE Select ENSP00000416330.2:n.459+56C>T
ENST00000442011.6:c.459+56C>T ENSP00000416330.2:n.459+56C>T
ENST00000506699.5:n.580C>T
ENST00000507018.5:c.432C>T
ENST00000515433.1:n.807C>T
NM_000358.2:c.459+56C>T NP_000349.1:n.459+56C>T
NM_000358.3:c.459+56C>T MANE Select NP_000349.1:n.459+56C>T
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