Canonical Allele Identifier: CA371332847
Gene: TTPA HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.63066035C>A
GRCh37 chr8:g.63978594C>A
gnomAD v2:
8:63978594 C / A
gnomAD v4:
chr8-63066035-C-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV002037798
ClinVar Variation:
1452965
dbSNP:
397515524
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.421G>T MANE Select ENSP00000260116.4:p.Glu141Ter
ENST00000260116.4:c.421G>T ENSP00000260116.4:p.Glu141Ter
ENST00000521138.1:n.233-17432G>T
NM_000370.3:c.421G>T MANE Select NP_000361.1:p.Glu141Ter
XM_006716468.2:c.205-1719G>T XP_006716531.1:n.205-1719G>T
XM_006716468.4:c.205-1719G>T XP_006716531.1:n.205-1719G>T
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