Canonical Allele Identifier: CA421600297
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1922224
ClinVar RCV Id: RCV002621552
dbSNP Id: rs1248989346
gnomAD v3: 1-160130555-T-C
gnomAD v4: 1-160130555-T-C
MyVariant Identifiers: chr1:g.160100345T>C (hg19) chr1:g.160130555T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130555T>C , CM000663.2:g.160130555T>C GRCh38
NC_000001.10:g.160100345T>C , CM000663.1:g.160100345T>C GRCh37
NC_000001.9:g.158366969T>C NCBI36
NG_008014.1:g.19798T>C , LRG_6:g.19798T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1785T>C MANE Select ENSP00000354490.3:p.Ala595=
ENST00000361216.7:c.1785T>C ENSP00000354490.3:p.Ala595=
ENST00000392233.7:c.1785T>C ENSP00000376066.3:p.Ala595=
ENST00000447527.1:c.917T>C
ENST00000472488.5:n.1888T>C
NM_000702.3:c.1785T>C NP_000693.1:p.Ala595=
NM_000702.4:c.1785T>C MANE Select NP_000693.1:p.Ala595=
Search 100 bp 5'
Search 100 bp 3'