Canonical Allele Identifier: CA8928515
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1058356
ClinVar RCV Id: RCV001367485 RCV001534093
dbSNP Id: rs370056601
ExAC: 18:29178635 A / G
gnomAD v2: 18-29178635-A-G
gnomAD v3: 18-31598672-A-G
gnomAD v4: 18-31598672-A-G
MyVariant Identifiers: chr18:g.29178635A>G (hg19) chr18:g.31598672A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598672A>G , CM000680.2:g.31598672A>G GRCh38
NC_000018.9:g.29178635A>G , CM000680.1:g.29178635A>G GRCh37
NC_000018.8:g.27432633A>G NCBI36
NG_009490.1:g.11906A>G , LRG_416:g.11906A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.441A>G MANE Select ENSP00000237014.4:p.Glu147=
ENST00000610404.5:c.345A>G ENSP00000477599.2:p.Glu115=
ENST00000649620.1:c.441A>G ENSP00000497927.1:p.Glu147=
ENST00000237014.7:c.441A>G ENSP00000237014.3:p.Glu147=
ENST00000610404.4:c.555A>G ENSP00000477599.1:p.Glu185=
ENST00000613781.1:c.417A>G ENSP00000479174.1:p.Glu139=
NM_000371.3:c.441A>G , LRG_416t1:c.441A>G NP_000362.1:p.Glu147=
NM_000371.4:c.441A>G MANE Select NP_000362.1:p.Glu147=
Search 100 bp 5'
Search 100 bp 3'