Canonical Allele Identifier: CA1584790892
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751422129
gnomAD v4: 5-136046152-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046152A>T , CM000667.2:g.136046152A>T GRCh38
NC_000005.9:g.135381841A>T , CM000667.1:g.135381841A>T GRCh37
NC_000005.8:g.135409740A>T NCBI36
NG_012646.1:g.22258A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-183A>T MANE Select ENSP00000416330.2:n.299-183A>T
ENST00000442011.6:c.299-183A>T ENSP00000416330.2:n.299-183A>T
ENST00000504185.5:n.456-183A>T
ENST00000506699.5:n.364-183A>T
ENST00000507018.5:c.216-183A>T
ENST00000515433.1:n.408A>T
NM_000358.2:c.299-183A>T NP_000349.1:n.299-183A>T
NM_000358.3:c.299-183A>T MANE Select NP_000349.1:n.299-183A>T
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