Canonical Allele Identifier: CA4763273
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 727159
ClinVar RCV Id: RCV000901463 RCV001275638
dbSNP Id: rs766200402
ExAC: 8:63985497 T / C
gnomAD v2: 8-63985497-T-C
gnomAD v3: 8-63072938-T-C
gnomAD v4: 8-63072938-T-C
MyVariant Identifiers: chr8:g.63985497T>C (hg19) chr8:g.63072938T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072938T>C , CM000670.2:g.63072938T>C GRCh38
NC_000008.10:g.63985497T>C , CM000670.1:g.63985497T>C GRCh37
NC_000008.9:g.64148051T>C NCBI36
NG_016123.1:g.18116A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000260116.5:c.355A>G MANE Select ENSP00000260116.4:p.Ile119Val
ENST00000260116.4:c.355A>G ENSP00000260116.4:p.Ile119Val
ENST00000521138.1:n.232+12880A>G
NM_000370.3:c.355A>G MANE Select NP_000361.1:p.Ile119Val
XM_006716468.2:c.205-8622A>G XP_006716531.1:n.205-8622A>G
XM_006716468.4:c.205-8622A>G XP_006716531.1:n.205-8622A>G
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