Canonical Allele Identifier: CA128051566
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs916175606
gnomAD v2: 5-135381874-C-T
gnomAD v3: 5-136046185-C-T
gnomAD v4: 5-136046185-C-T
MyVariant Identifiers: chr5:g.135381874C>T (hg19) chr5:g.136046185C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046185C>T , CM000667.2:g.136046185C>T GRCh38
NC_000005.9:g.135381874C>T , CM000667.1:g.135381874C>T GRCh37
NC_000005.8:g.135409773C>T NCBI36
NG_012646.1:g.22291C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-150C>T MANE Select ENSP00000416330.2:n.299-150C>T
ENST00000442011.6:c.299-150C>T ENSP00000416330.2:n.299-150C>T
ENST00000504185.5:n.456-150C>T
ENST00000506699.5:n.364-150C>T
ENST00000507018.5:c.216-150C>T
ENST00000515433.1:n.441C>T
NM_000358.2:c.299-150C>T NP_000349.1:n.299-150C>T
NM_000358.3:c.299-150C>T MANE Select NP_000349.1:n.299-150C>T
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