Canonical Allele Identifier: CA133827324
Gene: HIVEP1 HGNC NCBI

Linked Data

dbSNP Id: rs1040994
gnomAD v2: 6-12197213-C-A
gnomAD v3: 6-12196980-C-A
gnomAD v4: 6-12196980-C-A
MyVariant Identifiers: chr6:g.12197213C>A (hg19) chr6:g.12196980C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12196980C>A , CM000668.2:g.12196980C>A GRCh38
NC_000006.11:g.12197213C>A , CM000668.1:g.12197213C>A GRCh37
NC_000006.10:g.12305199C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001743372.1:n.7806-2241C>A
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