Canonical Allele Identifier: CA179467
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13458
ClinVar RCV Id: RCV000014400 RCV000152543 RCV000586735 RCV000621591 RCV001170383 RCV001173296
dbSNP Id: rs121918095
ExAC: 18:29178565 G / A
gnomAD v2: 18-29178565-G-A
gnomAD v3: 18-31598602-G-A
gnomAD v4: 18-31598602-G-A
MyVariant Identifiers: chr18:g.29178565G>A (hg19) chr18:g.31598602G>A (hg38)
PubMed: PMID:10529370 PMID:10772944 PMID:12440486 PMID:14640030 PMID:15820680 PMID:16911959 PMID:17431395 PMID:24101373 PMID:25311081
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598602G>A , CM000680.2:g.31598602G>A GRCh38
NC_000018.9:g.29178565G>A , CM000680.1:g.29178565G>A GRCh37
NC_000018.8:g.27432563G>A NCBI36
NG_009490.1:g.11836G>A , LRG_416:g.11836G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.371G>A MANE Select ENSP00000237014.4:p.Arg124His
ENST00000610404.5:c.275G>A ENSP00000477599.2:p.Arg92His
ENST00000649620.1:c.371G>A ENSP00000497927.1:p.Arg124His
ENST00000237014.7:c.371G>A ENSP00000237014.3:p.Arg124His
ENST00000610404.4:c.485G>A ENSP00000477599.1:p.Arg162His
ENST00000613781.1:c.371G>A ENSP00000479174.1:p.Arg124His
NM_000371.3:c.371G>A , LRG_416t1:c.371G>A NP_000362.1:p.Arg124His
NM_000371.4:c.371G>A MANE Select NP_000362.1:p.Arg124His
Search 100 bp 5'
Search 100 bp 3'