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Canonical Allele Identifier:
CA300232623
Gene: TPMTP1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.47630754A>G
GRCh37
chr18:g.45157125A>G
Linked Data - Sequence & Population
gnomAD v4:
chr18-47630754-A-G
Joint Max Group AF
0.00002383 (AMR)
Exomes Max Group AF
0.00003323 (AMR)
Linked Data - NCBI & NCI
dbSNP:
29001611
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.47630754A>G , CM000680.2:g.47630754A>G
GRCh38
NC_000018.9:g.45157125A>G , CM000680.1:g.45157125A>G
GRCh37
NC_000018.8:g.43411123A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000592307.1:n.643A>G
Search 100 bp 5'
Search 100 bp 3'