Canonical Allele Identifier: CA361032688
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs759397924
gnomAD v2: 5-135382106-G-T
gnomAD v3: 5-136046417-G-T
gnomAD v4: 5-136046417-G-T
MyVariant Identifiers: chr5:g.135382106G>T (hg19) chr5:g.136046417G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046417G>T , CM000667.2:g.136046417G>T GRCh38
NC_000005.9:g.135382106G>T , CM000667.1:g.135382106G>T GRCh37
NC_000005.8:g.135410005G>T NCBI36
NG_012646.1:g.22523G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.381G>T MANE Select ENSP00000416330.2:p.Lys127Asn
ENST00000442011.6:c.381G>T ENSP00000416330.2:p.Lys127Asn
ENST00000504185.5:n.538G>T
ENST00000506699.5:n.446G>T
ENST00000507018.5:c.298G>T
ENST00000515433.1:n.673G>T
NM_000358.2:c.381G>T NP_000349.1:p.Lys127Asn
NM_000358.3:c.381G>T MANE Select NP_000349.1:p.Lys127Asn
Search 100 bp 5'
Search 100 bp 3'