Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49954184G>C , CM000674.2:g.49954184G>C | GRCh38 |
| NC_000012.11:g.50347967G>C , CM000674.1:g.50347967G>C | GRCh37 |
| NC_000012.10:g.48634234G>C | NCBI36 |
| NG_008913.1:g.8444G>C , LRG_717:g.8444G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000486.6:c.390G>C (AQP2) MANE Select | NP_000477.1:p.Ala130= |
| ENST00000199280.4:c.390G>C (AQP2) MANE Select | ENSP00000199280.3:p.Ala130= |
| NM_000486.5:c.390G>C , LRG_717t1:c.390G>C (AQP2) | NP_000477.1:p.Ala130= |
| NR_110590.1:n.421C>G (AQP5-AS1) | |
| NR_110591.1:n.118-2096C>G (AQP5-AS1) | |
| ENST00000199280.3:c.390G>C (AQP2) | ENSP00000199280.3:p.Ala130= |
| ENST00000550862.1:c.390G>C (AQP2) | ENSP00000450022.1:p.Ala130= |
| ENST00000551526.5:c.390G>C (AQP2) | ENSP00000447148.1:p.Ala130= |