Canonical Allele Identifier: CA121968

Gene: AVP

Linked Data

• ClinVar Variation Id: 12216
• ClinVar RCV Id: RCV000013000 ; RCV002513002
• dbSNP Id: rs121964890
• gnomAD v4: 20-3083039-G-A
• MyVariant Identifiers: chr20:g.3063685G>A (hg19) ; chr20:g.3083039G>A (hg38)
• PubMed: PMID:9814475

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3083039G>A , CM000682.2:g.3083039G>A	GRCh38
NC_000020.10:g.3063685G>A , CM000682.1:g.3063685G>A	GRCh37
NC_000020.9:g.3011685G>A	NCBI36
NG_008663.1:g.6686C>T , LRG_715:g.6686C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380293.3:c.260C>T MANE Select	ENSP00000369647.3:p.Ser87Phe
NM_000490.4:c.260C>T , LRG_715t1:c.260C>T	NP_000481.2:p.Ser87Phe
XM_011529267.1:c.260C>T	XP_011527569.1:p.Ser87Phe
XM_011529267.2:c.260C>T	XP_011527569.1:p.Ser87Phe
NM_000490.5:c.260C>T MANE Select	NP_000481.2:p.Ser87Phe