Canonical Allele Identifier: CA4797469
Gene: ATP6V0D2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.86151523G>A
GRCh37 chr8:g.87163752G>A
Revel Score:
ENST00000285393 (MANE Select) 0.034
gnomAD v2:
8:87163752 G / A
gnomAD v3:
8:86151523 G / A
gnomAD v4:
chr8-86151523-G-A
Joint Max Group AF 0.00111984 (NFE)
Genomes Max Group AF 0.00068991 (NFE)
Exomes Max Group AF 0.00113625 (NFE)
ClinVar RCV:
RCV004124346
ClinVar Variation:
2274491
dbSNP:
138573520
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.86151523G>A , CM000670.2:g.86151523G>A GRCh38
NC_000008.10:g.87163752G>A , CM000670.1:g.87163752G>A GRCh37
NC_000008.9:g.87232868G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000285393.4:c.874G>A MANE Select ENSP00000285393.3:p.Val292Met
ENST00000285393.3:c.874G>A ENSP00000285393.3:p.Val292Met
NM_152565.1:c.874G>A MANE Select NP_689778.1:p.Val292Met
XM_011516955.1:c.604G>A XP_011515257.1:p.Val202Met
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