Canonical Allele Identifier: CA344923
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 65597
ClinVar RCV Id: RCV000055804 RCV000522097
dbSNP Id: rs35916840
ExAC: 8:63976767 G / A
gnomAD v2: 8-63976767-G-A
gnomAD v3: 8-63064208-G-A
gnomAD v4: 8-63064208-G-A
COSMIC: COSM3900939
MyVariant Identifiers: chr8:g.63976767G>A (hg19) chr8:g.63064208G>A (hg38)
PubMed: PMID:20301419
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63064208G>A , CM000670.2:g.63064208G>A GRCh38
NC_000008.10:g.63976767G>A , CM000670.1:g.63976767G>A GRCh37
NC_000008.9:g.64139321G>A NCBI36
NG_016123.1:g.26846C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.661C>T MANE Select ENSP00000260116.4:p.Arg221Trp
ENST00000260116.4:c.661C>T ENSP00000260116.4:p.Arg221Trp
ENST00000521138.1:n.233-15605C>T
NM_000370.3:c.661C>T MANE Select NP_000361.1:p.Arg221Trp
XM_006716468.2:c.313C>T XP_006716531.1:p.Arg105Trp
XM_006716468.4:c.313C>T XP_006716531.1:p.Arg105Trp
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