Canonical Allele Identifier: CA238786802
Gene: AVPR1A HGNC NCBI

Linked Data

dbSNP Id: rs536931353
gnomAD v2: 12-63540587-A-G
gnomAD v3: 12-63146807-A-G
gnomAD v4: 12-63146807-A-G
MyVariant Identifiers: chr12:g.63540587A>G (hg19) chr12:g.63146807A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63146807A>G , CM000674.2:g.63146807A>G GRCh38
NC_000012.11:g.63540587A>G , CM000674.1:g.63540587A>G GRCh37
NC_000012.10:g.61826854A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*552T>C MANE Select ENSP00000299178.3:n.*552T>C
ENST00000299178.3:c.*552T>C ENSP00000299178.2:n.*552T>C
ENST00000550940.1:c.538+614T>C ENSP00000449822.1:n.538+614T>C
NM_000706.4:c.*552T>C NP_000697.1:n.*552T>C
XM_005269002.3:c.*552T>C XP_005269059.1:n.*552T>C
NM_000706.5:c.*552T>C MANE Select NP_000697.1:n.*552T>C
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