Canonical Allele Identifier: CA16620918
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 424377
ClinVar RCV Id: RCV000481533
dbSNP Id: rs1064796944
gnomAD v4: 20-3082802-T-A
MyVariant Identifiers: chr20:g.3063448T>A (hg19) chr20:g.3082802T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082802T>A , CM000682.2:g.3082802T>A GRCh38
NC_000020.10:g.3063448T>A , CM000682.1:g.3063448T>A GRCh37
NC_000020.9:g.3011448T>A NCBI36
NG_008663.1:g.6923A>T , LRG_715:g.6923A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.323A>T MANE Select ENSP00000369647.3:p.Glu108Val
NM_000490.4:c.323A>T , LRG_715t1:c.323A>T NP_000481.2:p.Glu108Val
XM_011529267.1:c.323A>T XP_011527569.1:p.Glu108Val
XM_011529267.2:c.323A>T XP_011527569.1:p.Glu108Val
NM_000490.5:c.323A>T MANE Select NP_000481.2:p.Glu108Val
Search 100 bp 5'
Search 100 bp 3'