Canonical Allele Identifier: CA310943067
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs917977387
gnomAD v2: 20-3063510-C-T
gnomAD v3: 20-3082864-C-T
gnomAD v4: 20-3082864-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082864C>T , CM000682.2:g.3082864C>T GRCh38
NC_000020.10:g.3063510C>T , CM000682.1:g.3063510C>T GRCh37
NC_000020.9:g.3011510C>T NCBI36
NG_008663.1:g.6861G>A , LRG_715:g.6861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.323-62G>A MANE Select ENSP00000369647.3:n.323-62G>A
NM_000490.4:c.323-62G>A , LRG_715t1:c.323-62G>A NP_000481.2:n.323-62G>A
XM_011529267.1:c.323-62G>A XP_011527569.1:n.323-62G>A
XM_011529267.2:c.323-62G>A XP_011527569.1:n.323-62G>A
NM_000490.5:c.323-62G>A MANE Select NP_000481.2:n.323-62G>A