Canonical Allele Identifier: CA297740803
Gene: TTR HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31597008T>G
GRCh37 chr18:g.29176971T>G
gnomAD v2:
18:29176971 T / G
gnomAD v3:
18:31597008 T / G
gnomAD v4:
chr18-31597008-T-G
Joint Max Group AF 0.44367021 (MID)
Genomes Max Group AF 0.36027705 (AFR)
Exomes Max Group AF 0.24660855 (NFE)
dbSNP:
3794884
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31597008T>G , CM000680.2:g.31597008T>G GRCh38
NC_000018.9:g.29176971T>G , CM000680.1:g.29176971T>G GRCh37
NC_000018.8:g.27430969T>G NCBI36
NG_009490.1:g.10242T>G , LRG_416:g.10242T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.337-1560T>G MANE Select ENSP00000237014.4:n.337-1560T>G
ENST00000610404.5:c.241-1560T>G ENSP00000477599.2:n.241-1560T>G
ENST00000649620.1:c.337-1560T>G ENSP00000497927.1:n.337-1560T>G
ENST00000237014.7:c.337-1560T>G ENSP00000237014.3:n.337-1560T>G
ENST00000610404.4:c.401-132T>G ENSP00000477599.1:n.401-132T>G
ENST00000613781.1:c.337-1560T>G ENSP00000479174.1:n.337-1560T>G
NM_000371.3:c.337-1560T>G , LRG_416t1:c.337-1560T>G NP_000362.1:n.337-1560T>G
NM_000371.4:c.337-1560T>G MANE Select NP_000362.1:n.337-1560T>G
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