Canonical Allele Identifier: CA310943091
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs968999163
gnomAD v2: 20-3063545-A-C
gnomAD v3: 20-3082899-A-C
gnomAD v4: 20-3082899-A-C
MyVariant Identifiers: chr20:g.3063545A>C (hg19) chr20:g.3082899A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082899A>C , CM000682.2:g.3082899A>C GRCh38
NC_000020.10:g.3063545A>C , CM000682.1:g.3063545A>C GRCh37
NC_000020.9:g.3011545A>C NCBI36
NG_008663.1:g.6826T>G , LRG_715:g.6826T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.322+78T>G MANE Select ENSP00000369647.3:n.322+78T>G
NM_000490.4:c.322+78T>G , LRG_715t1:c.322+78T>G NP_000481.2:n.322+78T>G
XM_011529267.1:c.322+78T>G XP_011527569.1:n.322+78T>G
XM_011529267.2:c.322+78T>G XP_011527569.1:n.322+78T>G
NM_000490.5:c.322+78T>G MANE Select NP_000481.2:n.322+78T>G
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