Canonical Allele Identifier: CA9739458
Gene: AVP HGNC NCBI

Linked Data

dbSNP Id: rs747554567
ExAC: 20:3063738 C / G
gnomAD v2: 20-3063738-C-G
gnomAD v3: 20-3083092-C-G
gnomAD v4: 20-3083092-C-G
MyVariant Identifiers: chr20:g.3063738C>G (hg19) chr20:g.3083092C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3083092C>G , CM000682.2:g.3083092C>G GRCh38
NC_000020.10:g.3063738C>G , CM000682.1:g.3063738C>G GRCh37
NC_000020.9:g.3011738C>G NCBI36
NG_008663.1:g.6633G>C , LRG_715:g.6633G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380293.3:c.207G>C MANE Select ENSP00000369647.3:p.Thr69=
NM_000490.4:c.207G>C , LRG_715t1:c.207G>C NP_000481.2:p.Thr69=
XM_011529267.1:c.207G>C XP_011527569.1:p.Thr69=
XM_011529267.2:c.207G>C XP_011527569.1:p.Thr69=
NM_000490.5:c.207G>C MANE Select NP_000481.2:p.Thr69=
Search 100 bp 5'
Search 100 bp 3'