Canonical Allele Identifier: CA9739425
Gene: AVP HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.3082788C>T
GRCh37 chr20:g.3063434C>T
Revel Score:
ENST00000380293 (MANE Select) 0.509
gnomAD v2:
20:3063434 C / T
gnomAD v3:
20:3082788 C / T
gnomAD v4:
chr20-3082788-C-T
Joint Max Group AF 0.00001938 (NFE)
Genomes Max Group AF 0.00004784 (NFE)
Exomes Max Group AF 0.00001444 (NFE)
ClinVar RCV:
RCV003557915
ClinVar Variation:
2742268
dbSNP:
121964889
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082788C>T , CM000682.2:g.3082788C>T GRCh38
NC_000020.10:g.3063434C>T , CM000682.1:g.3063434C>T GRCh37
NC_000020.9:g.3011434C>T NCBI36
NG_008663.1:g.6937G>A , LRG_715:g.6937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.337G>A MANE Select ENSP00000369647.3:p.Glu113Lys
NM_000490.4:c.337G>A , LRG_715t1:c.337G>A NP_000481.2:p.Glu113Lys
XM_011529267.1:c.337G>A XP_011527569.1:p.Glu113Lys
XM_011529267.2:c.337G>A XP_011527569.1:p.Glu113Lys
NM_000490.5:c.337G>A MANE Select NP_000481.2:p.Glu113Lys
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