Canonical Allele Identifier: CA4763270
Gene: TTPA HGNC NCBI

Linked Data

ClinVar Variation Id: 1594264
ClinVar RCV Id: RCV002105576
dbSNP Id: rs761564561
ExAC: 8:63985480 T / G
gnomAD v2: 8-63985480-T-G
gnomAD v3: 8-63072921-T-G
gnomAD v4: 8-63072921-T-G
MyVariant Identifiers: chr8:g.63985480T>G (hg19) chr8:g.63072921T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.63072921T>G , CM000670.2:g.63072921T>G GRCh38
NC_000008.10:g.63985480T>G , CM000670.1:g.63985480T>G GRCh37
NC_000008.9:g.64148034T>G NCBI36
NG_016123.1:g.18133A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260116.5:c.358+14A>C MANE Select ENSP00000260116.4:n.358+14A>C
ENST00000260116.4:c.358+14A>C ENSP00000260116.4:n.358+14A>C
ENST00000521138.1:n.232+12897A>C
NM_000370.3:c.358+14A>C MANE Select NP_000361.1:n.358+14A>C
XM_006716468.2:c.205-8605A>C XP_006716531.1:n.205-8605A>C
XM_006716468.4:c.205-8605A>C XP_006716531.1:n.205-8605A>C
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