Canonical Allele Identifier: CA402157185
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 470718
ClinVar RCV Id: RCV000528163
dbSNP Id: rs1176464590
gnomAD v2: 18-29175226-T-C
gnomAD v3: 18-31595263-T-C
gnomAD v4: 18-31595263-T-C
MyVariant Identifiers: chr18:g.29175226T>C (hg19) chr18:g.31595263T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595263T>C , CM000680.2:g.31595263T>C GRCh38
NC_000018.9:g.29175226T>C , CM000680.1:g.29175226T>C GRCh37
NC_000018.8:g.27429224T>C NCBI36
NG_009490.1:g.8497T>C , LRG_416:g.8497T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.336+8T>C MANE Select ENSP00000237014.4:n.336+8T>C
ENST00000610404.5:c.240+8T>C ENSP00000477599.2:n.240+8T>C
ENST00000649620.1:c.336+8T>C ENSP00000497927.1:n.336+8T>C
ENST00000237014.7:c.336+8T>C ENSP00000237014.3:n.336+8T>C
ENST00000541025.2:n.370T>C
ENST00000610404.4:c.344T>C ENSP00000477599.1:p.Ile115Thr
ENST00000613781.1:c.336+8T>C ENSP00000479174.1:n.336+8T>C
NM_000371.3:c.336+8T>C , LRG_416t1:c.336+8T>C NP_000362.1:n.336+8T>C
NM_000371.4:c.336+8T>C MANE Select NP_000362.1:n.336+8T>C
Search 100 bp 5'
Search 100 bp 3'