Canonical Allele Identifier: CA310943393
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs561478305
gnomAD v3: 20-3083197-T-C
gnomAD v4: 20-3083197-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3083197T>C , CM000682.2:g.3083197T>C GRCh38
NC_000020.10:g.3063843T>C , CM000682.1:g.3063843T>C GRCh37
NC_000020.9:g.3011843T>C NCBI36
NG_008663.1:g.6528A>G , LRG_715:g.6528A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.121-19A>G MANE Select ENSP00000369647.3:n.121-19A>G
NM_000490.4:c.121-19A>G , LRG_715t1:c.121-19A>G NP_000481.2:n.121-19A>G
XM_011529267.1:c.121-19A>G XP_011527569.1:n.121-19A>G
XM_011529267.2:c.121-19A>G XP_011527569.1:n.121-19A>G
NM_000490.5:c.121-19A>G MANE Select NP_000481.2:n.121-19A>G