Canonical Allele Identifier: CA1005189
Gene: ATP5PB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.111449473C>T
GRCh37 chr1:g.111992095C>T
gnomAD v2:
1:111992095 C / T
gnomAD v3:
1:111449473 C / T
gnomAD v4:
chr1-111449473-C-T
Joint Max Group AF 0.74805796 (EAS)
Genomes Max Group AF 0.72278151 (EAS)
Exomes Max Group AF 0.74923256 (EAS)
dbSNP:
1264899
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.111449473C>T , CM000663.2:g.111449473C>T GRCh38
NC_000001.10:g.111992095C>T , CM000663.1:g.111992095C>T GRCh37
NC_000001.9:g.111793618C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369722.8:c.-69C>T MANE Select ENSP00000358737.3:n.-69C>T
ENST00000369721.8:n.9C>T
ENST00000369722.7:c.-69C>T ENSP00000358737.3:n.-69C>T
ENST00000493119.5:n.365C>T
NM_001688.4:c.-69C>T NP_001679.2:n.-69C>T
NM_001688.5:c.-69C>T MANE Select NP_001679.2:n.-69C>T
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