Canonical Allele Identifier: CA3420031
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs775327030
ExAC: 5:135382196 T / G
gnomAD v2: 5-135382196-T-G
gnomAD v3: 5-136046507-T-G
gnomAD v4: 5-136046507-T-G
MyVariant Identifiers: chr5:g.135382196T>G (hg19) chr5:g.136046507T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046507T>G , CM000667.2:g.136046507T>G GRCh38
NC_000005.9:g.135382196T>G , CM000667.1:g.135382196T>G GRCh37
NC_000005.8:g.135410095T>G NCBI36
NG_012646.1:g.22613T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+12T>G MANE Select ENSP00000416330.2:n.459+12T>G
ENST00000442011.6:c.459+12T>G ENSP00000416330.2:n.459+12T>G
ENST00000506699.5:n.536T>G
ENST00000507018.5:c.388T>G
ENST00000515433.1:n.763T>G
NM_000358.2:c.459+12T>G NP_000349.1:n.459+12T>G
NM_000358.3:c.459+12T>G MANE Select NP_000349.1:n.459+12T>G
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