Canonical Allele Identifier: CA123116
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13461
ClinVar RCV Id: RCV000014403 RCV000014406 RCV002408461
dbSNP Id: rs104894665
MyVariant Identifiers: chr18:g.29172980T>C (hg19) chr18:g.31593017T>C (hg38)
PubMed: PMID:3178532 PMID:9818883 PMID:10488818 PMID:11812437
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31593017T>C , CM000680.2:g.31593017T>C GRCh38
NC_000018.9:g.29172980T>C , CM000680.1:g.29172980T>C GRCh37
NC_000018.8:g.27426978T>C NCBI36
NG_009490.1:g.6251T>C , LRG_416:g.6251T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.191T>C MANE Select ENSP00000237014.4:p.Phe64Ser
ENST00000610404.5:c.95T>C ENSP00000477599.2:p.Phe32Ser
ENST00000649620.1:c.191T>C ENSP00000497927.1:p.Phe64Ser
ENST00000237014.7:c.191T>C ENSP00000237014.3:p.Phe64Ser
ENST00000432547.7:n.217T>C
ENST00000541025.2:n.217T>C
ENST00000610404.4:c.191T>C ENSP00000477599.1:p.Phe64Ser
ENST00000613781.1:c.191T>C ENSP00000479174.1:p.Phe64Ser
NM_000371.3:c.191T>C , LRG_416t1:c.191T>C NP_000362.1:p.Phe64Ser
NM_000371.4:c.191T>C MANE Select NP_000362.1:p.Phe64Ser
Search 100 bp 5'
Search 100 bp 3'