Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49954664G>A , CM000674.2:g.49954664G>A | GRCh38 |
| NC_000012.11:g.50348447G>A , CM000674.1:g.50348447G>A | GRCh37 |
| NC_000012.10:g.48634714G>A | NCBI36 |
| NG_008913.1:g.8924G>A , LRG_717:g.8924G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.560G>A (AQP2) MANE Select | NP_000477.1:p.Arg187His |
| ENST00000199280.4:c.560G>A (AQP2) MANE Select | ENSP00000199280.3:p.Arg187His |
| NM_000486.5:c.560G>A , LRG_717t1:c.560G>A (AQP2) | NP_000477.1:p.Arg187His |
| NR_110590.1:n.257-316C>T (AQP5-AS1) | |
| NR_110591.1:n.118-2576C>T (AQP5-AS1) | |
| ENST00000199280.3:c.560G>A (AQP2) | ENSP00000199280.3:p.Arg187His |
| ENST00000550862.1:c.686G>A (AQP2) | ENSP00000450022.1:p.Arg229His |
| ENST00000551526.5:c.560G>A (AQP2) | ENSP00000447148.1:p.Arg187His |