Canonical Allele Identifier: CA408061687
Gene: AVP HGNC NCBI

Linked Data

ClinVar Variation Id: 2439449
ClinVar RCV Id: RCV003143718
gnomAD v4: 20-3083081-A-G
MyVariant Identifiers: chr20:g.3063727A>G (hg19) chr20:g.3083081A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3083081A>G , CM000682.2:g.3083081A>G GRCh38
NC_000020.10:g.3063727A>G , CM000682.1:g.3063727A>G GRCh37
NC_000020.9:g.3011727A>G NCBI36
NG_008663.1:g.6644T>C , LRG_715:g.6644T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.218T>C MANE Select ENSP00000369647.3:p.Leu73Pro
NM_000490.4:c.218T>C , LRG_715t1:c.218T>C NP_000481.2:p.Leu73Pro
XM_011529267.1:c.218T>C XP_011527569.1:p.Leu73Pro
XM_011529267.2:c.218T>C XP_011527569.1:p.Leu73Pro
NM_000490.5:c.218T>C MANE Select NP_000481.2:p.Leu73Pro
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