Canonical Allele Identifier: CA1194541
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1007084
ClinVar RCV Id: RCV001304222
dbSNP Id: rs775807326
ExAC: 1:160100080 G / C
gnomAD v2: 1-160100080-G-C
gnomAD v4: 1-160130290-G-C
MyVariant Identifiers: chr1:g.160100080G>C (hg19) chr1:g.160130290G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130290G>C , CM000663.2:g.160130290G>C GRCh38
NC_000001.10:g.160100080G>C , CM000663.1:g.160100080G>C GRCh37
NC_000001.9:g.158366704G>C NCBI36
NG_008014.1:g.19533G>C , LRG_6:g.19533G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1650G>C MANE Select ENSP00000354490.3:p.Leu550=
ENST00000361216.7:c.1650G>C ENSP00000354490.3:p.Leu550=
ENST00000392233.7:c.1650G>C ENSP00000376066.3:p.Leu550=
ENST00000447527.1:c.782G>C
ENST00000472488.5:n.1753G>C
NM_000702.3:c.1650G>C NP_000693.1:p.Leu550=
NM_000702.4:c.1650G>C MANE Select NP_000693.1:p.Leu550=
Search 100 bp 5'
Search 100 bp 3'