Canonical Allele Identifier: CA8928411
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 756250
ClinVar RCV Id: RCV001413569
dbSNP Id: rs779619795
ExAC: 18:29172903 T / C
gnomAD v2: 18-29172903-T-C
gnomAD v4: 18-31592940-T-C
MyVariant Identifiers: chr18:g.29172903T>C (hg19) chr18:g.31592940T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592940T>C , CM000680.2:g.31592940T>C GRCh38
NC_000018.9:g.29172903T>C , CM000680.1:g.29172903T>C GRCh37
NC_000018.8:g.27426901T>C NCBI36
NG_009490.1:g.6174T>C , LRG_416:g.6174T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.114T>C MANE Select ENSP00000237014.4:p.Asp38=
ENST00000610404.5:c.18T>C ENSP00000477599.2:p.Asp6=
ENST00000649620.1:c.114T>C ENSP00000497927.1:p.Asp38=
ENST00000237014.7:c.114T>C ENSP00000237014.3:p.Asp38=
ENST00000432547.7:n.140T>C
ENST00000541025.2:n.140T>C
ENST00000610404.4:c.114T>C ENSP00000477599.1:p.Asp38=
ENST00000613781.1:c.114T>C ENSP00000479174.1:p.Asp38=
NM_000371.3:c.114T>C , LRG_416t1:c.114T>C NP_000362.1:p.Asp38=
NM_000371.4:c.114T>C MANE Select NP_000362.1:p.Asp38=
Search 100 bp 5'
Search 100 bp 3'