Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49954233G= , CM000674.2:g.49954233G= | GRCh38 |
| NC_000012.11:g.50348016G= , CM000674.1:g.50348016G= | GRCh37 |
| NC_000012.10:g.48634283G= | NCBI36 |
| NG_008913.1:g.8493G= , LRG_717:g.8493G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.439G= (AQP2) MANE Select | NP_000477.1:p.Ala147= |
| ENST00000199280.4:c.439G= (AQP2) MANE Select | ENSP00000199280.3:p.Ala147= |
| NM_000486.5:c.439G= , LRG_717t1:c.439G= (AQP2) | NP_000477.1:p.Ala147= |
| NR_110590.1:n.372C= (AQP5-AS1) | |
| NR_110591.1:n.118-2145C= (AQP5-AS1) | |
| ENST00000199280.3:c.439G= (AQP2) | ENSP00000199280.3:p.Ala147= |
| ENST00000550862.1:c.439G= (AQP2) | ENSP00000450022.1:p.Ala147= |
| ENST00000551526.5:c.439G= (AQP2) | ENSP00000447148.1:p.Ala147= |