Canonical Allele Identifier: CA72786031
Gene: EPM2AIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 823333
ClinVar RCV Id: RCV001019493
dbSNP Id: rs894594084
gnomAD v3: 3-36993223-T-C
gnomAD v4: 3-36993223-T-C
MyVariant Identifiers: chr3:g.37034714T>C (hg19) chr3:g.36993223T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.36993223T>C , CM000665.2:g.36993223T>C GRCh38
NC_000003.11:g.37034714T>C , CM000665.1:g.37034714T>C GRCh37
NC_000003.10:g.37009718T>C NCBI36
NG_007109.2:g.4874T>C , LRG_216:g.4874T>C
NG_008418.1:g.5082A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014805.3:c.-146A>G NP_055620.1:n.-146A>G
Search 100 bp 5'
Search 100 bp 3'