Canonical Allele Identifier: CA408061483
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1182513667
gnomAD v2: 20-3063630-G-T
gnomAD v3: 20-3082984-G-T
gnomAD v4: 20-3082984-G-T
MyVariant Identifiers: chr20:g.3063630G>T (hg19) chr20:g.3082984G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082984G>T , CM000682.2:g.3082984G>T GRCh38
NC_000020.10:g.3063630G>T , CM000682.1:g.3063630G>T GRCh37
NC_000020.9:g.3011630G>T NCBI36
NG_008663.1:g.6741C>A , LRG_715:g.6741C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.315C>A MANE Select ENSP00000369647.3:p.Cys105Ter
NM_000490.4:c.315C>A , LRG_715t1:c.315C>A NP_000481.2:p.Cys105Ter
XM_011529267.1:c.315C>A XP_011527569.1:p.Cys105Ter
XM_011529267.2:c.315C>A XP_011527569.1:p.Cys105Ter
NM_000490.5:c.315C>A MANE Select NP_000481.2:p.Cys105Ter
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