Canonical Allele Identifier: CA634168467
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1297331086
gnomAD v2: 20-3065110-C-A
gnomAD v3: 20-3084464-C-A
gnomAD v4: 20-3084464-C-A
MyVariant Identifiers: chr20:g.3065110C>A (hg19) chr20:g.3084464C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084464C>A , CM000682.2:g.3084464C>A GRCh38
NC_000020.10:g.3065110C>A , CM000682.1:g.3065110C>A GRCh37
NC_000020.9:g.3013110C>A NCBI36
NG_008663.1:g.5261G>T , LRG_715:g.5261G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.120+91G>T MANE Select ENSP00000369647.3:n.120+91G>T
NM_000490.4:c.120+91G>T , LRG_715t1:c.120+91G>T NP_000481.2:n.120+91G>T
XM_011529267.1:c.120+91G>T XP_011527569.1:n.120+91G>T
XM_011529267.2:c.120+91G>T XP_011527569.1:n.120+91G>T
NM_000490.5:c.120+91G>T MANE Select NP_000481.2:n.120+91G>T
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