Canonical Allele Identifier: CA344920
Gene: TTPA HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.63066035C>T
GRCh37 chr8:g.63978594C>T
Revel Score:
ENST00000260116 (MANE Select) 0.887
gnomAD v2:
8:63978594 C / T
gnomAD v3:
8:63066035 C / T
gnomAD v4:
chr8-63066035-C-T
Joint Max Group AF 0.00000615 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV000055798
RCV001804789
ClinVar Variation:
65592
dbSNP:
397515524
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63066035C>T , CM000670.2:g.63066035C>T GRCh38
NC_000008.10:g.63978594C>T , CM000670.1:g.63978594C>T GRCh37
NC_000008.9:g.64141148C>T NCBI36
NG_016123.1:g.25019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.421G>A MANE Select ENSP00000260116.4:p.Glu141Lys
ENST00000260116.4:c.421G>A ENSP00000260116.4:p.Glu141Lys
ENST00000521138.1:n.233-17432G>A
NM_000370.3:c.421G>A MANE Select NP_000361.1:p.Glu141Lys
XM_006716468.2:c.205-1719G>A XP_006716531.1:n.205-1719G>A
XM_006716468.4:c.205-1719G>A XP_006716531.1:n.205-1719G>A
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