ClinGen Allele Registry
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Canonical Allele Identifier:
CA585097012
Gene: PVT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1200712379
gnomAD v2:
8-129075786-T-C
gnomAD v3:
8-128063540-T-C
gnomAD v4:
8-128063540-T-C
MyVariant Identifiers:
chr8:g.129075786T>C (hg19)
chr8:g.128063540T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.128063540T>C , CM000670.2:g.128063540T>C
GRCh38
NC_000008.10:g.129075786T>C , CM000670.1:g.129075786T>C
GRCh37
NC_000008.9:g.129144968T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_003367.3:n.1213-6620T>C
Search 100 bp 5'
Search 100 bp 3'