Canonical Allele Identifier: CA238786584
Gene: AVPR1A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.63144866G>C
GRCh37 chr12:g.63538646G>C
gnomAD v2:
12:63538646 G / C
gnomAD v3:
12:63144866 G / C
gnomAD v4:
chr12-63144866-G-C
Joint Max Group AF 0.53327398 (AFR)
Genomes Max Group AF 0.53332774 (AFR)
Exomes Max Group AF 0.11733203 (SAS)
dbSNP:
10784339
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.63144866G>C , CM000674.2:g.63144866G>C GRCh38
NC_000012.11:g.63538646G>C , CM000674.1:g.63538646G>C GRCh37
NC_000012.10:g.61824913G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299178.4:c.*2493C>G MANE Select ENSP00000299178.3:n.*2493C>G
ENST00000299178.3:c.*2493C>G ENSP00000299178.2:n.*2493C>G
NM_000706.4:c.*2493C>G NP_000697.1:n.*2493C>G
XM_005269002.3:c.*2493C>G XP_005269059.1:n.*2493C>G
NM_000706.5:c.*2493C>G MANE Select NP_000697.1:n.*2493C>G
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