Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49955982C= , CM000674.2:g.49955982C= | GRCh38 |
| NC_000012.11:g.50349765C= , CM000674.1:g.50349765C= | GRCh37 |
| NC_000012.10:g.48636032C= | NCBI36 |
| NG_008913.1:g.10242C= , LRG_717:g.10242C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.*374C= (AQP2) MANE Select | NP_000477.1:n.*374C= |
| ENST00000199280.4:c.*374C= (AQP2) MANE Select | ENSP00000199280.3:n.*374C= |
| NM_000486.5:c.*374C= , LRG_717t1:c.*374C= (AQP2) | NP_000477.1:n.*374C= |
| NR_110590.1:n.257-1634G= (AQP5-AS1) | |
| NR_110591.1:n.118-3894G= (AQP5-AS1) | |
| ENST00000199280.3:c.*374C= (AQP2) | ENSP00000199280.3:n.*374C= |
| ENST00000551526.5:c.*114+42C= (AQP2) | ENSP00000447148.1:n.*114+42C= |