Canonical Allele Identifier: CA408061502
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs1432060450
gnomAD v2: 20-3063638-C-G
gnomAD v3: 20-3082992-C-G
gnomAD v4: 20-3082992-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3082992C>G , CM000682.2:g.3082992C>G GRCh38
NC_000020.10:g.3063638C>G , CM000682.1:g.3063638C>G GRCh37
NC_000020.9:g.3011638C>G NCBI36
NG_008663.1:g.6733G>C , LRG_715:g.6733G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380293.3:c.307G>C MANE Select ENSP00000369647.3:p.Val103Leu
NM_000490.4:c.307G>C , LRG_715t1:c.307G>C NP_000481.2:p.Val103Leu
XM_011529267.1:c.307G>C XP_011527569.1:p.Val103Leu
XM_011529267.2:c.307G>C XP_011527569.1:p.Val103Leu
NM_000490.5:c.307G>C MANE Select NP_000481.2:p.Val103Leu