Canonical Allele Identifier: CA10749872
Gene: AVPR1B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.206110072T>C
GRCh37 chr1:g.206231259A>G
gnomAD v2:
1:206231259 A / G
gnomAD v3:
1:206110072 T / C
gnomAD v4:
chr1-206110072-T-C
Joint Max Group AF 0.53675411 (AFR)
Genomes Max Group AF 0.53252291 (AFR)
Exomes Max Group AF 0.53886242 (AFR)
dbSNP:
33985287
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206110072T>C , CM000663.2:g.206110072T>C GRCh38
NC_000001.10:g.206231259A>G , CM000663.1:g.206231259A>G GRCh37
NC_000001.9:g.204397882A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367126.5:c.*117A>G MANE Select ENSP00000356094.4:n.*117A>G
ENST00000367126.4:c.*117A>G ENSP00000356094.4:n.*117A>G
ENST00000612906.1:n.488A>G
NM_000707.3:c.*117A>G NP_000698.1:n.*117A>G
NM_000707.4:c.*117A>G NP_000698.1:n.*117A>G
NM_000707.5:c.*117A>G MANE Select NP_000698.1:n.*117A>G
Search 100 bp 5'
Search 100 bp 3'