Canonical Allele Identifier: CA344455261
Gene: AVPR1B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.206116518G>C , CM000663.2:g.206116518G>C GRCh38
NC_000001.10:g.206224813C>G , CM000663.1:g.206224813C>G GRCh37
NC_000001.9:g.204391436C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367126.5:c.373C>G MANE Select ENSP00000356094.4:p.Leu125Val
ENST00000367126.4:c.373C>G ENSP00000356094.4:p.Leu125Val
ENST00000612906.1:n.36+1146C>G
NM_000707.3:c.373C>G NP_000698.1:p.Leu125Val
NM_000707.4:c.373C>G NP_000698.1:p.Leu125Val
NM_000707.5:c.373C>G MANE Select NP_000698.1:p.Leu125Val