Canonical Allele Identifier: CA182025
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 178280
ClinVar RCV Id: RCV000155021 RCV000474349 RCV000766993 RCV001173294 RCV001798511 RCV002408691
dbSNP Id: rs138065384
ExAC: 18:29172979 T / C
gnomAD v2: 18-29172979-T-C
gnomAD v3: 18-31593016-T-C
gnomAD v4: 18-31593016-T-C
MyVariant Identifiers: chr18:g.29172979T>C (hg19) chr18:g.31593016T>C (hg38)
PubMed: PMID:19781421
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31593016T>C , CM000680.2:g.31593016T>C GRCh38
NC_000018.9:g.29172979T>C , CM000680.1:g.29172979T>C GRCh37
NC_000018.8:g.27426977T>C NCBI36
NG_009490.1:g.6250T>C , LRG_416:g.6250T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.190T>C MANE Select ENSP00000237014.4:p.Phe64Leu
ENST00000610404.5:c.94T>C ENSP00000477599.2:p.Phe32Leu
ENST00000649620.1:c.190T>C ENSP00000497927.1:p.Phe64Leu
ENST00000237014.7:c.190T>C ENSP00000237014.3:p.Phe64Leu
ENST00000432547.7:n.216T>C
ENST00000541025.2:n.216T>C
ENST00000610404.4:c.190T>C ENSP00000477599.1:p.Phe64Leu
ENST00000613781.1:c.190T>C ENSP00000479174.1:p.Phe64Leu
NM_000371.3:c.190T>C , LRG_416t1:c.190T>C NP_000362.1:p.Phe64Leu
NM_000371.4:c.190T>C MANE Select NP_000362.1:p.Phe64Leu
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