Canonical Allele Identifier: CA402156924
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 636837
ClinVar RCV Id: RCV000788781 RCV002249489 RCV002424785
dbSNP Id: rs1555631393
MyVariant Identifiers: chr18:g.29175102G>A (hg19) chr18:g.31595139G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595139G>A , CM000680.2:g.31595139G>A GRCh38
NC_000018.9:g.29175102G>A , CM000680.1:g.29175102G>A GRCh37
NC_000018.8:g.27429100G>A NCBI36
NG_009490.1:g.8373G>A , LRG_416:g.8373G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.220G>A MANE Select ENSP00000237014.4:p.Glu74Lys
ENST00000610404.5:c.124G>A ENSP00000477599.2:p.Glu42Lys
ENST00000649620.1:c.220G>A ENSP00000497927.1:p.Glu74Lys
ENST00000237014.7:c.220G>A ENSP00000237014.3:p.Glu74Lys
ENST00000541025.2:n.246G>A
ENST00000610404.4:c.220G>A ENSP00000477599.1:p.Glu74Lys
ENST00000613781.1:c.220G>A ENSP00000479174.1:p.Glu74Lys
NM_000371.3:c.220G>A , LRG_416t1:c.220G>A NP_000362.1:p.Glu74Lys
NM_000371.4:c.220G>A MANE Select NP_000362.1:p.Glu74Lys
Search 100 bp 5'
Search 100 bp 3'