Canonical Allele Identifier: CA310944043
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs942986158
gnomAD v2: 20-3065095-C-T
gnomAD v3: 20-3084449-C-T
gnomAD v4: 20-3084449-C-T
MyVariant Identifiers: chr20:g.3065095C>T (hg19) chr20:g.3084449C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084449C>T , CM000682.2:g.3084449C>T GRCh38
NC_000020.10:g.3065095C>T , CM000682.1:g.3065095C>T GRCh37
NC_000020.9:g.3013095C>T NCBI36
NG_008663.1:g.5276G>A , LRG_715:g.5276G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.120+106G>A MANE Select ENSP00000369647.3:n.120+106G>A
NM_000490.4:c.120+106G>A , LRG_715t1:c.120+106G>A NP_000481.2:n.120+106G>A
XM_011529267.1:c.120+106G>A XP_011527569.1:n.120+106G>A
XM_011529267.2:c.120+106G>A XP_011527569.1:n.120+106G>A
NM_000490.5:c.120+106G>A MANE Select NP_000481.2:n.120+106G>A
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