Canonical Allele Identifier: CA3420399
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs750947320
ExAC: 5:135391400 C / G
gnomAD v2: 5-135391400-C-G
gnomAD v3: 5-136055711-C-G
gnomAD v4: 5-136055711-C-G
MyVariant Identifiers: chr5:g.135391400C>G (hg19) chr5:g.136055711C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055711C>G , CM000667.2:g.136055711C>G GRCh38
NC_000005.9:g.135391400C>G , CM000667.1:g.135391400C>G GRCh37
NC_000005.8:g.135419299C>G NCBI36
NG_012646.1:g.31817C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1442C>G MANE Select ENSP00000416330.2:p.Ala481Gly
ENST00000442011.6:c.1442C>G ENSP00000416330.2:p.Ala481Gly
ENST00000506699.5:n.1959C>G
ENST00000507018.5:c.1420C>G
ENST00000509485.5:c.357C>G
ENST00000514242.5:n.213C>G
ENST00000514554.5:c.594C>G
NM_000358.2:c.1442C>G NP_000349.1:p.Ala481Gly
NM_000358.3:c.1442C>G MANE Select NP_000349.1:p.Ala481Gly
Search 100 bp 5'
Search 100 bp 3'