Canonical Allele Identifier: CA402156860
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 633448
ClinVar RCV Id: RCV000781919 RCV001342557 RCV002406713
dbSNP Id: rs1340627860
gnomAD v4: 18-31593012-G-T
COSMIC: COSM4071801
MyVariant Identifiers: chr18:g.29172975G>T (hg19) chr18:g.31593012G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31593012G>T , CM000680.2:g.31593012G>T GRCh38
NC_000018.9:g.29172975G>T , CM000680.1:g.29172975G>T GRCh37
NC_000018.8:g.27426973G>T NCBI36
NG_009490.1:g.6246G>T , LRG_416:g.6246G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.186G>T MANE Select ENSP00000237014.4:p.Glu62Asp
ENST00000610404.5:c.90G>T ENSP00000477599.2:p.Glu30Asp
ENST00000649620.1:c.186G>T ENSP00000497927.1:p.Glu62Asp
ENST00000237014.7:c.186G>T ENSP00000237014.3:p.Glu62Asp
ENST00000432547.7:n.212G>T
ENST00000541025.2:n.212G>T
ENST00000610404.4:c.186G>T ENSP00000477599.1:p.Glu62Asp
ENST00000613781.1:c.186G>T ENSP00000479174.1:p.Glu62Asp
NM_000371.3:c.186G>T , LRG_416t1:c.186G>T NP_000362.1:p.Glu62Asp
NM_000371.4:c.186G>T MANE Select NP_000362.1:p.Glu62Asp
Search 100 bp 5'
Search 100 bp 3'