Canonical Allele Identifier: CA402156927
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1519705
ClinVar RCV Id: RCV002024760
dbSNP Id: rs1598845097
MyVariant Identifiers: chr18:g.29175103A>C (hg19) chr18:g.31595140A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595140A>C , CM000680.2:g.31595140A>C GRCh38
NC_000018.9:g.29175103A>C , CM000680.1:g.29175103A>C GRCh37
NC_000018.8:g.27429101A>C NCBI36
NG_009490.1:g.8374A>C , LRG_416:g.8374A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.221A>C MANE Select ENSP00000237014.4:p.Glu74Ala
ENST00000610404.5:c.125A>C ENSP00000477599.2:p.Glu42Ala
ENST00000649620.1:c.221A>C ENSP00000497927.1:p.Glu74Ala
ENST00000237014.7:c.221A>C ENSP00000237014.3:p.Glu74Ala
ENST00000541025.2:n.247A>C
ENST00000610404.4:c.221A>C ENSP00000477599.1:p.Glu74Ala
ENST00000613781.1:c.221A>C ENSP00000479174.1:p.Glu74Ala
NM_000371.3:c.221A>C , LRG_416t1:c.221A>C NP_000362.1:p.Glu74Ala
NM_000371.4:c.221A>C MANE Select NP_000362.1:p.Glu74Ala
Search 100 bp 5'
Search 100 bp 3'