Canonical Allele Identifier: CA408061854
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 2776586
ClinVar RCV Id: RCV003664784
dbSNP Id: rs1350221235
gnomAD v2: 20-3063805-C-T
gnomAD v4: 20-3083159-C-T
MyVariant Identifiers: chr20:g.3063805C>T (hg19) chr20:g.3083159C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3083159C>T , CM000682.2:g.3083159C>T GRCh38
NC_000020.10:g.3063805C>T , CM000682.1:g.3063805C>T GRCh37
NC_000020.9:g.3011805C>T NCBI36
NG_008663.1:g.6566G>A , LRG_715:g.6566G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.140G>A MANE Select ENSP00000369647.3:p.Gly47Glu
NM_000490.4:c.140G>A , LRG_715t1:c.140G>A NP_000481.2:p.Gly47Glu
XM_011529267.1:c.140G>A XP_011527569.1:p.Gly47Glu
XM_011529267.2:c.140G>A XP_011527569.1:p.Gly47Glu
NM_000490.5:c.140G>A MANE Select NP_000481.2:p.Gly47Glu
Search 100 bp 5'
Search 100 bp 3'