Canonical Allele Identifier: CA214382
Gene: TTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13426
dbSNP Id: rs76992529

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598655G>A , CM000680.2:g.31598655G>A GRCh38
NC_000018.9:g.29178618G>A , CM000680.1:g.29178618G>A GRCh37
NC_000018.8:g.27432616G>A NCBI36
NG_009490.1:g.11889G>A , LRG_416:g.11889G>A

Transcript Alleles

HGVS Amino-acid change
NM_000371.3:c.424G>A , LRG_416t1:c.424G>A NP_000362.1:p.Val142Ile
ENST00000237014.7:c.424G>A ENSP00000237014.3:p.Val142Ile
ENST00000610404.4:c.538G>A ENSP00000477599.1:p.Val180Ile
ENST00000613781.1:c.400G>A ENSP00000479174.1:p.Val134Ile