Canonical Allele Identifier: CA2641409588
Gene: TTR HGNC NCBI

Linked Data

gnomAD v4: 18-31595437-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595437T>C , CM000680.2:g.31595437T>C GRCh38
NC_000018.9:g.29175400T>C , CM000680.1:g.29175400T>C GRCh37
NC_000018.8:g.27429398T>C NCBI36
NG_009490.1:g.8671T>C , LRG_416:g.8671T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.336+182T>C MANE Select ENSP00000237014.4:n.336+182T>C
ENST00000610404.5:c.240+182T>C ENSP00000477599.2:n.240+182T>C
ENST00000649620.1:c.336+182T>C ENSP00000497927.1:n.336+182T>C
ENST00000237014.7:c.336+182T>C ENSP00000237014.3:n.336+182T>C
ENST00000541025.2:n.544T>C
ENST00000610404.4:c.357+161T>C ENSP00000477599.1:n.357+161T>C
ENST00000613781.1:c.336+182T>C ENSP00000479174.1:n.336+182T>C
NM_000371.3:c.336+182T>C , LRG_416t1:c.336+182T>C NP_000362.1:n.336+182T>C
NM_000371.4:c.336+182T>C MANE Select NP_000362.1:n.336+182T>C
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