Canonical Allele Identifier: CA8928490
Gene: TTR HGNC NCBI

Linked Data

dbSNP Id: rs376188620
ExAC: 18:29178507 G / C
gnomAD v2: 18-29178507-G-C
MyVariant Identifiers: chr18:g.29178507G>C (hg19) chr18:g.31598544G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598544G>C , CM000680.2:g.31598544G>C GRCh38
NC_000018.9:g.29178507G>C , CM000680.1:g.29178507G>C GRCh37
NC_000018.8:g.27432505G>C NCBI36
NG_009490.1:g.11778G>C , LRG_416:g.11778G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.337-24G>C MANE Select ENSP00000237014.4:n.337-24G>C
ENST00000610404.5:c.241-24G>C ENSP00000477599.2:n.241-24G>C
ENST00000649620.1:c.337-24G>C ENSP00000497927.1:n.337-24G>C
ENST00000237014.7:c.337-24G>C ENSP00000237014.3:n.337-24G>C
ENST00000610404.4:c.451-24G>C ENSP00000477599.1:n.451-24G>C
ENST00000613781.1:c.337-24G>C ENSP00000479174.1:n.337-24G>C
NM_000371.3:c.337-24G>C , LRG_416t1:c.337-24G>C NP_000362.1:n.337-24G>C
NM_000371.4:c.337-24G>C MANE Select NP_000362.1:n.337-24G>C
Search 100 bp 5'
Search 100 bp 3'