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