Canonical Allele Identifier: CA344455245
Gene: AVPR1B HGNC NCBI

Linked Data

dbSNP Id: rs1663476122
gnomAD v3: 1-206116511-G-C
gnomAD v4: 1-206116511-G-C
MyVariant Identifiers: chr1:g.206224820C>G (hg19) chr1:g.206116511G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206116511G>C , CM000663.2:g.206116511G>C GRCh38
NC_000001.10:g.206224820C>G , CM000663.1:g.206224820C>G GRCh37
NC_000001.9:g.204391443C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367126.5:c.380C>G MANE Select ENSP00000356094.4:p.Ala127Gly
ENST00000367126.4:c.380C>G ENSP00000356094.4:p.Ala127Gly
ENST00000612906.1:n.36+1153C>G
NM_000707.3:c.380C>G NP_000698.1:p.Ala127Gly
NM_000707.4:c.380C>G NP_000698.1:p.Ala127Gly
NM_000707.5:c.380C>G MANE Select NP_000698.1:p.Ala127Gly
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