Canonical Allele Identifier: CA1194912
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 854821
ClinVar RCV Id: RCV001059948 RCV001560428
dbSNP Id: rs781023681
ExAC: 1:160109763 G / A
gnomAD v2: 1-160109763-G-A
gnomAD v3: 1-160139973-G-A
gnomAD v4: 1-160139973-G-A
COSMIC: COSM1245706
MyVariant Identifiers: chr1:g.160109763G>A (hg19) chr1:g.160139973G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160139973G>A , CM000663.2:g.160139973G>A GRCh38
NC_000001.10:g.160109763G>A , CM000663.1:g.160109763G>A GRCh37
NC_000001.9:g.158376387G>A NCBI36
NG_008014.1:g.29216G>A , LRG_6:g.29216G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.3023G>A MANE Select ENSP00000354490.3:p.Arg1008Gln
ENST00000361216.7:c.3023G>A ENSP00000354490.3:p.Arg1008Gln
ENST00000392233.7:c.2990G>A ENSP00000376066.3:p.Arg997Gln
ENST00000447527.1:c.2104G>A
ENST00000459972.1:n.15G>A
ENST00000463989.1:n.359G>A
NM_000702.3:c.3023G>A NP_000693.1:p.Arg1008Gln
NM_000702.4:c.3023G>A MANE Select NP_000693.1:p.Arg1008Gln
Search 100 bp 5'
Search 100 bp 3'