Canonical Allele Identifier: CA421600358
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1154409
ClinVar RCV Id: RCV001496408
dbSNP Id: rs1448554496
gnomAD v2: 1-160100074-T-C
gnomAD v3: 1-160130284-T-C
gnomAD v4: 1-160130284-T-C
MyVariant Identifiers: chr1:g.160100074T>C (hg19) chr1:g.160130284T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160130284T>C , CM000663.2:g.160130284T>C GRCh38
NC_000001.10:g.160100074T>C , CM000663.1:g.160100074T>C GRCh37
NC_000001.9:g.158366698T>C NCBI36
NG_008014.1:g.19527T>C , LRG_6:g.19527T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.1644T>C MANE Select ENSP00000354490.3:p.Arg548=
ENST00000361216.7:c.1644T>C ENSP00000354490.3:p.Arg548=
ENST00000392233.7:c.1644T>C ENSP00000376066.3:p.Arg548=
ENST00000447527.1:c.776T>C
ENST00000472488.5:n.1747T>C
NM_000702.3:c.1644T>C NP_000693.1:p.Arg548=
NM_000702.4:c.1644T>C MANE Select NP_000693.1:p.Arg548=
Search 100 bp 5'
Search 100 bp 3'