Canonical Allele Identifier: CA1194285
Gene: ATP1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 971982
ClinVar RCV Id: RCV001247900
dbSNP Id: rs148666791
ExAC: 1:160097357 T / C
gnomAD v2: 1-160097357-T-C
gnomAD v3: 1-160127567-T-C
gnomAD v4: 1-160127567-T-C
MyVariant Identifiers: chr1:g.160097357T>C (hg19) chr1:g.160127567T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160127567T>C , CM000663.2:g.160127567T>C GRCh38
NC_000001.10:g.160097357T>C , CM000663.1:g.160097357T>C GRCh37
NC_000001.9:g.158363981T>C NCBI36
NG_008014.1:g.16810T>C , LRG_6:g.16810T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361216.8:c.764T>C MANE Select ENSP00000354490.3:p.Ile255Thr
ENST00000361216.7:c.764T>C ENSP00000354490.3:p.Ile255Thr
ENST00000392233.7:c.764T>C ENSP00000376066.3:p.Ile255Thr
ENST00000472488.5:n.867T>C
NM_000702.3:c.764T>C NP_000693.1:p.Ile255Thr
NM_000702.4:c.764T>C MANE Select NP_000693.1:p.Ile255Thr
Search 100 bp 5'
Search 100 bp 3'