Canonical Allele Identifier: CA1359542
Gene: AVPR1B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.206110180G>C
GRCh37 chr1:g.206231151C>G
gnomAD v2:
1:206231151 C / G
gnomAD v3:
1:206110180 G / C
gnomAD v4:
chr1-206110180-G-C
Joint Max Group AF 0.12679121 (AFR)
Genomes Max Group AF 0.1245515 (AFR)
Exomes Max Group AF 0.12760832 (AFR)
dbSNP:
33976516
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206110180G>C , CM000663.2:g.206110180G>C GRCh38
NC_000001.10:g.206231151C>G , CM000663.1:g.206231151C>G GRCh37
NC_000001.9:g.204397774C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367126.5:c.*9C>G MANE Select ENSP00000356094.4:n.*9C>G
ENST00000367126.4:c.*9C>G ENSP00000356094.4:n.*9C>G
ENST00000612906.1:n.380C>G
NM_000707.3:c.*9C>G NP_000698.1:n.*9C>G
NM_000707.4:c.*9C>G NP_000698.1:n.*9C>G
NM_000707.5:c.*9C>G MANE Select NP_000698.1:n.*9C>G
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