Canonical Allele Identifier: CA563254378
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1484781862
gnomAD v2: 5-135392696-G-C
gnomAD v3: 5-136057007-G-C
gnomAD v4: 5-136057007-G-C
MyVariant Identifiers: chr5:g.135392696G>C (hg19) chr5:g.136057007G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057007G>C , CM000667.2:g.136057007G>C GRCh38
NC_000005.9:g.135392696G>C , CM000667.1:g.135392696G>C GRCh37
NC_000005.8:g.135420595G>C NCBI36
NG_012646.1:g.33113G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+212G>C MANE Select ENSP00000416330.2:n.1678+212G>C
ENST00000442011.6:c.1678+212G>C ENSP00000416330.2:n.1678+212G>C
ENST00000506699.5:n.2195+212G>C
ENST00000507018.5:c.1656+212G>C
ENST00000509485.5:c.675+212G>C
ENST00000514242.5:n.449+212G>C
ENST00000514554.5:c.830+212G>C
NM_000358.2:c.1678+212G>C NP_000349.1:n.1678+212G>C
NM_000358.3:c.1678+212G>C MANE Select NP_000349.1:n.1678+212G>C
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