Canonical Allele Identifier: CA408061289
Gene: AVP HGNC NCBI

Linked Data

gnomAD v4: 20-3082727-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082727G>A , CM000682.2:g.3082727G>A GRCh38
NC_000020.10:g.3063373G>A , CM000682.1:g.3063373G>A GRCh37
NC_000020.9:g.3011373G>A NCBI36
NG_008663.1:g.6998C>T , LRG_715:g.6998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.398C>T MANE Select ENSP00000369647.3:p.Thr133Met
NM_000490.4:c.398C>T , LRG_715t1:c.398C>T NP_000481.2:p.Thr133Met
XM_011529267.1:c.398C>T XP_011527569.1:p.Thr133Met
XM_011529267.2:c.398C>T XP_011527569.1:p.Thr133Met
NM_000490.5:c.398C>T MANE Select NP_000481.2:p.Thr133Met