Canonical Allele Identifier: CA3420388
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs748172304
ExAC: 5:135391372 C / G
gnomAD v2: 5-135391372-C-G
gnomAD v4: 5-136055683-C-G
MyVariant Identifiers: chr5:g.135391372C>G (hg19) chr5:g.136055683C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055683C>G , CM000667.2:g.136055683C>G GRCh38
NC_000005.9:g.135391372C>G , CM000667.1:g.135391372C>G GRCh37
NC_000005.8:g.135419271C>G NCBI36
NG_012646.1:g.31789C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1414C>G MANE Select ENSP00000416330.2:p.Leu472Val
ENST00000442011.6:c.1414C>G ENSP00000416330.2:p.Leu472Val
ENST00000506699.5:n.1931C>G
ENST00000507018.5:c.1392C>G
ENST00000509485.5:c.329C>G
ENST00000514242.5:n.185C>G
ENST00000514554.5:c.566C>G
NM_000358.2:c.1414C>G NP_000349.1:p.Leu472Val
NM_000358.3:c.1414C>G MANE Select NP_000349.1:p.Leu472Val
Search 100 bp 5'
Search 100 bp 3'