Canonical Allele Identifier: CA128051571
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs934059948
gnomAD v2: 5-135381892-T-C
gnomAD v3: 5-136046203-T-C
gnomAD v4: 5-136046203-T-C
MyVariant Identifiers: chr5:g.135381892T>C (hg19) chr5:g.136046203T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046203T>C , CM000667.2:g.136046203T>C GRCh38
NC_000005.9:g.135381892T>C , CM000667.1:g.135381892T>C GRCh37
NC_000005.8:g.135409791T>C NCBI36
NG_012646.1:g.22309T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-132T>C MANE Select ENSP00000416330.2:n.299-132T>C
ENST00000442011.6:c.299-132T>C ENSP00000416330.2:n.299-132T>C
ENST00000504185.5:n.456-132T>C
ENST00000506699.5:n.364-132T>C
ENST00000507018.5:c.216-132T>C
ENST00000515433.1:n.459T>C
NM_000358.2:c.299-132T>C NP_000349.1:n.299-132T>C
NM_000358.3:c.299-132T>C MANE Select NP_000349.1:n.299-132T>C
Search 100 bp 5'
Search 100 bp 3'