Linked Data
ClinVar Variation Id:
309273
ClinVar RCV Id:
RCV000278872
dbSNP Id:
rs776879353
gnomAD v2:
12-50352552-A-G
gnomAD v3:
12-49958769-A-G
gnomAD v4:
12-49958769-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49958769A>G , CM000674.2:g.49958769A>G | GRCh38 |
| NC_000012.11:g.50352552A>G , CM000674.1:g.50352552A>G | GRCh37 |
| NC_000012.10:g.48638819A>G | NCBI36 |
| NG_008913.1:g.13029A>G , LRG_717:g.13029A>G | |
| NG_033883.1:g.2274A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.*3161A>G (AQP2) MANE Select | ENSP00000199280.3:n.*3161A>G | |
| ENST00000199280.3:c.*3161A>G (AQP2) | ENSP00000199280.3:n.*3161A>G | |
| NM_000486.5:c.*3161A>G , LRG_717t1:c.*3161A>G (AQP2) | NP_000477.1:n.*3161A>G | |
| NR_110590.1:n.256+3898T>C (AQP5-AS1) | ||
| NR_110591.1:n.117+3898T>C (AQP5-AS1) | ||
| NM_000486.6:c.*3161A>G (AQP2) MANE Select | NP_000477.1:n.*3161A>G |