Canonical Allele Identifier: CA743329807
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1250123219
gnomAD v3: 20-3082860-G-C
gnomAD v4: 20-3082860-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082860G>C , CM000682.2:g.3082860G>C GRCh38
NC_000020.10:g.3063506G>C , CM000682.1:g.3063506G>C GRCh37
NC_000020.9:g.3011506G>C NCBI36
NG_008663.1:g.6865C>G , LRG_715:g.6865C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.323-58C>G MANE Select ENSP00000369647.3:n.323-58C>G
NM_000490.4:c.323-58C>G , LRG_715t1:c.323-58C>G NP_000481.2:n.323-58C>G
XM_011529267.1:c.323-58C>G XP_011527569.1:n.323-58C>G
XM_011529267.2:c.323-58C>G XP_011527569.1:n.323-58C>G
NM_000490.5:c.323-58C>G MANE Select NP_000481.2:n.323-58C>G