Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49954647C>T , CM000674.2:g.49954647C>T | GRCh38 |
| NC_000012.11:g.50348430C>T , CM000674.1:g.50348430C>T | GRCh37 |
| NC_000012.10:g.48634697C>T | NCBI36 |
| NG_008913.1:g.8907C>T , LRG_717:g.8907C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.543C>T (AQP2) MANE Select | NP_000477.1:p.Cys181= |
| ENST00000199280.4:c.543C>T (AQP2) MANE Select | ENSP00000199280.3:p.Cys181= |
| NM_000486.5:c.543C>T , LRG_717t1:c.543C>T (AQP2) | NP_000477.1:p.Cys181= |
| NR_110590.1:n.257-299G>A (AQP5-AS1) | |
| NR_110591.1:n.118-2559G>A (AQP5-AS1) | |
| ENST00000199280.3:c.543C>T (AQP2) | ENSP00000199280.3:p.Cys181= |
| ENST00000550862.1:c.669C>T (AQP2) | ENSP00000450022.1:p.Cys223= |
| ENST00000551526.5:c.543C>T (AQP2) | ENSP00000447148.1:p.Cys181= |