Canonical Allele Identifier: CA8928494

Gene: TTR

Linked Data

• ClinVar Variation Id: 228190
• ClinVar RCV Id: RCV000223469 ; RCV001173308 ; RCV002517520
• dbSNP Id: rs762691667
• ExAC: 18:29178518 T / C
• gnomAD v2: 18-29178518-T-C
• gnomAD v4: 18-31598555-T-C
• MyVariant Identifiers: chr18:g.29178518T>C (hg19) ; chr18:g.31598555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598555T>C , CM000680.2:g.31598555T>C	GRCh38
NC_000018.9:g.29178518T>C , CM000680.1:g.29178518T>C	GRCh37
NC_000018.8:g.27432516T>C	NCBI36
NG_009490.1:g.11789T>C , LRG_416:g.11789T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.337-13T>C MANE Select	ENSP00000237014.4:n.337-13T>C
ENST00000610404.5:c.241-13T>C	ENSP00000477599.2:n.241-13T>C
ENST00000649620.1:c.337-13T>C	ENSP00000497927.1:n.337-13T>C
ENST00000237014.7:c.337-13T>C	ENSP00000237014.3:n.337-13T>C
ENST00000610404.4:c.451-13T>C	ENSP00000477599.1:n.451-13T>C
ENST00000613781.1:c.337-13T>C	ENSP00000479174.1:n.337-13T>C
NM_000371.3:c.337-13T>C , LRG_416t1:c.337-13T>C	NP_000362.1:n.337-13T>C
NM_000371.4:c.337-13T>C MANE Select	NP_000362.1:n.337-13T>C