Canonical Allele Identifier: CA361039791
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1224385132
gnomAD v2: 5-135391463-T-C
gnomAD v3: 5-136055774-T-C
gnomAD v4: 5-136055774-T-C
MyVariant Identifiers: chr5:g.135391463T>C (hg19) chr5:g.136055774T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055774T>C , CM000667.2:g.136055774T>C GRCh38
NC_000005.9:g.135391463T>C , CM000667.1:g.135391463T>C GRCh37
NC_000005.8:g.135419362T>C NCBI36
NG_012646.1:g.31880T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1505T>C MANE Select ENSP00000416330.2:p.Met502Thr
ENST00000442011.6:c.1505T>C ENSP00000416330.2:p.Met502Thr
ENST00000506699.5:n.2022T>C
ENST00000507018.5:c.1483T>C
ENST00000509485.5:c.420T>C
ENST00000514242.5:n.276T>C
ENST00000514554.5:c.657T>C
NM_000358.2:c.1505T>C NP_000349.1:p.Met502Thr
NM_000358.3:c.1505T>C MANE Select NP_000349.1:p.Met502Thr
Search 100 bp 5'
Search 100 bp 3'