Canonical Allele Identifier: CA128052016
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs919949260
gnomAD v2: 5-135382305-T-C
gnomAD v3: 5-136046616-T-C
gnomAD v4: 5-136046616-T-C
MyVariant Identifiers: chr5:g.135382305T>C (hg19) chr5:g.136046616T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046616T>C , CM000667.2:g.136046616T>C GRCh38
NC_000005.9:g.135382305T>C , CM000667.1:g.135382305T>C GRCh37
NC_000005.8:g.135410204T>C NCBI36
NG_012646.1:g.22722T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+121T>C MANE Select ENSP00000416330.2:n.459+121T>C
ENST00000442011.6:c.459+121T>C ENSP00000416330.2:n.459+121T>C
ENST00000506699.5:n.645T>C
ENST00000507018.5:c.437+60T>C
ENST00000515433.1:n.872T>C
NM_000358.2:c.459+121T>C NP_000349.1:n.459+121T>C
NM_000358.3:c.459+121T>C MANE Select NP_000349.1:n.459+121T>C
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