Canonical Allele Identifier: CA1194569
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2040275
ClinVar RCV Id: RCV002886342
dbSNP Id: rs751829474
ExAC: 1:160100285 T / C
gnomAD v2: 1-160100285-T-C
gnomAD v3: 1-160130495-T-C
gnomAD v4: 1-160130495-T-C
MyVariant Identifiers: chr1:g.160100285T>C (hg19) chr1:g.160130495T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130495T>C , CM000663.2:g.160130495T>C GRCh38
NC_000001.10:g.160100285T>C , CM000663.1:g.160100285T>C GRCh37
NC_000001.9:g.158366909T>C NCBI36
NG_008014.1:g.19738T>C , LRG_6:g.19738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1725T>C MANE Select ENSP00000354490.3:p.Phe575=
ENST00000361216.7:c.1725T>C ENSP00000354490.3:p.Phe575=
ENST00000392233.7:c.1725T>C ENSP00000376066.3:p.Phe575=
ENST00000447527.1:c.857T>C
ENST00000472488.5:n.1828T>C
NM_000702.3:c.1725T>C NP_000693.1:p.Phe575=
NM_000702.4:c.1725T>C MANE Select NP_000693.1:p.Phe575=
Search 100 bp 5'
Search 100 bp 3'