Canonical Allele Identifier: CA657448380
Gene: AVP HGNC NCBI

Linked Data

gnomAD v4: 20-3084420-A-G
COSMIC: COSN24382320 COSN24390986
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3084420A>G , CM000682.2:g.3084420A>G GRCh38
NC_000020.10:g.3065066A>G , CM000682.1:g.3065066A>G GRCh37
NC_000020.9:g.3013066A>G NCBI36
NG_008663.1:g.5305T>C , LRG_715:g.5305T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.120+135T>C MANE Select ENSP00000369647.3:n.120+135T>C
NM_000490.4:c.120+135T>C , LRG_715t1:c.120+135T>C NP_000481.2:n.120+135T>C
XM_011529267.1:c.120+135T>C XP_011527569.1:n.120+135T>C
XM_011529267.2:c.120+135T>C XP_011527569.1:n.120+135T>C
NM_000490.5:c.120+135T>C MANE Select NP_000481.2:n.120+135T>C
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