dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49957170T>A , CM000674.2:g.49957170T>A | GRCh38 |
| NC_000012.11:g.50350953T>A , CM000674.1:g.50350953T>A | GRCh37 |
| NC_000012.10:g.48637220T>A | NCBI36 |
| NG_008913.1:g.11430T>A , LRG_717:g.11430T>A | |
| NG_033883.1:g.675T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.*1562T>A (AQP2) MANE Select | ENSP00000199280.3:n.*1562T>A | |
| ENST00000199280.3:c.*1562T>A (AQP2) | ENSP00000199280.3:n.*1562T>A | |
| ENST00000551526.5:c.*115-318T>A (AQP2) | ENSP00000447148.1:n.*115-318T>A | |
| NM_000486.5:c.*1562T>A , LRG_717t1:c.*1562T>A (AQP2) | NP_000477.1:n.*1562T>A | |
| NR_110590.1:n.257-2822A>T (AQP5-AS1) | ||
| NR_110591.1:n.118-5082A>T (AQP5-AS1) | ||
| NM_000486.6:c.*1562T>A (AQP2) MANE Select | NP_000477.1:n.*1562T>A |