Canonical Allele Identifier: CA563254377
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1248176623
gnomAD v2: 5-135392656-G-T
gnomAD v3: 5-136056967-G-T
gnomAD v4: 5-136056967-G-T
MyVariant Identifiers: chr5:g.135392656G>T (hg19) chr5:g.136056967G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056967G>T , CM000667.2:g.136056967G>T GRCh38
NC_000005.9:g.135392656G>T , CM000667.1:g.135392656G>T GRCh37
NC_000005.8:g.135420555G>T NCBI36
NG_012646.1:g.33073G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+172G>T MANE Select ENSP00000416330.2:n.1678+172G>T
ENST00000442011.6:c.1678+172G>T ENSP00000416330.2:n.1678+172G>T
ENST00000506699.5:n.2195+172G>T
ENST00000507018.5:c.1656+172G>T
ENST00000509485.5:c.675+172G>T
ENST00000514242.5:n.449+172G>T
ENST00000514554.5:c.830+172G>T
NM_000358.2:c.1678+172G>T NP_000349.1:n.1678+172G>T
NM_000358.3:c.1678+172G>T MANE Select NP_000349.1:n.1678+172G>T
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