Canonical Allele Identifier: CA3420010
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs372436914
ExAC: 5:135382099 C / G
gnomAD v2: 5-135382099-C-G
gnomAD v3: 5-136046410-C-G
gnomAD v4: 5-136046410-C-G
MyVariant Identifiers: chr5:g.135382099C>G (hg19) chr5:g.136046410C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046410C>G , CM000667.2:g.136046410C>G GRCh38
NC_000005.9:g.135382099C>G , CM000667.1:g.135382099C>G GRCh37
NC_000005.8:g.135409998C>G NCBI36
NG_012646.1:g.22516C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.374C>G MANE Select ENSP00000416330.2:p.Thr125Arg
ENST00000442011.6:c.374C>G ENSP00000416330.2:p.Thr125Arg
ENST00000504185.5:n.531C>G
ENST00000506699.5:n.439C>G
ENST00000507018.5:c.291C>G
ENST00000515433.1:n.666C>G
NM_000358.2:c.374C>G NP_000349.1:p.Thr125Arg
NM_000358.3:c.374C>G MANE Select NP_000349.1:p.Thr125Arg
Search 100 bp 5'
Search 100 bp 3'