Canonical Allele Identifier: CA1359230

Gene: AVPR1B

Linked Data

• dbSNP Id: rs201263168
• ExAC: 1:206224623 G / A
• gnomAD v2: 1-206224623-G-A
• gnomAD v3: 1-206116708-C-T
• gnomAD v4: 1-206116708-C-T
• MyVariant Identifiers: chr1:g.206224623G>A (hg19) ; chr1:g.206116708C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.206116708C>T , CM000663.2:g.206116708C>T	GRCh38
NC_000001.10:g.206224623G>A , CM000663.1:g.206224623G>A	GRCh37
NC_000001.9:g.204391246G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367126.5:c.183G>A MANE Select	ENSP00000356094.4:p.Gln61=
ENST00000367126.4:c.183G>A	ENSP00000356094.4:p.Gln61=
ENST00000612906.1:n.36+956G>A
NM_000707.3:c.183G>A	NP_000698.1:p.Gln61=
NM_000707.4:c.183G>A	NP_000698.1:p.Gln61=
NM_000707.5:c.183G>A MANE Select	NP_000698.1:p.Gln61=