Canonical Allele Identifier: CA344916
Gene: TTPA HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.63085847G>A
GRCh37 chr8:g.63998406G>A
Revel Score:
ENST00000260116 (MANE Select) 0.629
gnomAD v2:
8:63998406 G / A
gnomAD v3:
8:63085847 G / A
gnomAD v4:
chr8-63085847-G-A
Joint Max Group AF 0.00000441 (NFE)
Exomes Max Group AF 0.00000393 (NFE)
ClinVar RCV:
RCV000055793
RCV002514279
ClinVar Variation:
65589
dbSNP:
397515522
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63085847G>A , CM000670.2:g.63085847G>A GRCh38
NC_000008.10:g.63998406G>A , CM000670.1:g.63998406G>A GRCh37
NC_000008.9:g.64160960G>A NCBI36
NG_016123.1:g.5207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.175C>T MANE Select ENSP00000260116.4:p.Arg59Trp
ENST00000260116.4:c.175C>T ENSP00000260116.4:p.Arg59Trp
ENST00000521138.1:n.203C>T
NM_000370.3:c.175C>T MANE Select NP_000361.1:p.Arg59Trp
XM_006716468.2:c.175C>T XP_006716531.1:p.Arg59Trp
XM_006716468.4:c.175C>T XP_006716531.1:p.Arg59Trp
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