Canonical Allele Identifier: CA509404416
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1490294738
gnomAD v3: 20-3082780-C-T
gnomAD v4: 20-3082780-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082780C>T , CM000682.2:g.3082780C>T GRCh38
NC_000020.10:g.3063426C>T , CM000682.1:g.3063426C>T GRCh37
NC_000020.9:g.3011426C>T NCBI36
NG_008663.1:g.6945G>A , LRG_715:g.6945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.345G>A MANE Select ENSP00000369647.3:p.Glu115=
NM_000490.4:c.345G>A , LRG_715t1:c.345G>A NP_000481.2:p.Glu115=
XM_011529267.1:c.345G>A XP_011527569.1:p.Glu115=
XM_011529267.2:c.345G>A XP_011527569.1:p.Glu115=
NM_000490.5:c.345G>A MANE Select NP_000481.2:p.Glu115=