Canonical Allele Identifier: CA1194377
Gene: ATP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs773774617
ExAC: 1:160098573 C / G
gnomAD v2: 1-160098573-C-G
gnomAD v4: 1-160128783-C-G
MyVariant Identifiers: chr1:g.160098573C>G (hg19) chr1:g.160128783C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160128783C>G , CM000663.2:g.160128783C>G GRCh38
NC_000001.10:g.160098573C>G , CM000663.1:g.160098573C>G GRCh37
NC_000001.9:g.158365197C>G NCBI36
NG_008014.1:g.18026C>G , LRG_6:g.18026C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361216.8:c.1149C>G MANE Select ENSP00000354490.3:p.Arg383=
ENST00000361216.7:c.1149C>G ENSP00000354490.3:p.Arg383=
ENST00000392233.7:c.1149C>G ENSP00000376066.3:p.Arg383=
ENST00000447527.1:c.281C>G
ENST00000472488.5:n.1252C>G
NM_000702.3:c.1149C>G NP_000693.1:p.Arg383=
NM_000702.4:c.1149C>G MANE Select NP_000693.1:p.Arg383=
Search 100 bp 5'
Search 100 bp 3'