Canonical Allele Identifier: CA9739468
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 713238
ClinVar RCV Id: RCV000885346 RCV002507565
dbSNP Id: rs572548414
ExAC: 20:3063813 G / A
gnomAD v2: 20-3063813-G-A
gnomAD v3: 20-3083167-G-A
gnomAD v4: 20-3083167-G-A
MyVariant Identifiers: chr20:g.3063813G>A (hg19) chr20:g.3083167G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3083167G>A , CM000682.2:g.3083167G>A GRCh38
NC_000020.10:g.3063813G>A , CM000682.1:g.3063813G>A GRCh37
NC_000020.9:g.3011813G>A NCBI36
NG_008663.1:g.6558C>T , LRG_715:g.6558C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.132C>T MANE Select ENSP00000369647.3:p.Cys44=
NM_000490.4:c.132C>T , LRG_715t1:c.132C>T NP_000481.2:p.Cys44=
XM_011529267.1:c.132C>T XP_011527569.1:p.Cys44=
XM_011529267.2:c.132C>T XP_011527569.1:p.Cys44=
NM_000490.5:c.132C>T MANE Select NP_000481.2:p.Cys44=
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