Revel Score:
ENST00000199280 (MANE Select)
0.713
ENST00000550862
0.713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49954647C>G , CM000674.2:g.49954647C>G | GRCh38 |
| NC_000012.11:g.50348430C>G , CM000674.1:g.50348430C>G | GRCh37 |
| NC_000012.10:g.48634697C>G | NCBI36 |
| NG_008913.1:g.8907C>G , LRG_717:g.8907C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.543C>G (AQP2) MANE Select | ENSP00000199280.3:p.Cys181Trp | |
| ENST00000199280.3:c.543C>G (AQP2) | ENSP00000199280.3:p.Cys181Trp | |
| ENST00000550862.1:c.669C>G (AQP2) | ENSP00000450022.1:p.Cys223Trp | |
| ENST00000551526.5:c.543C>G (AQP2) | ENSP00000447148.1:p.Cys181Trp | |
| NM_000486.5:c.543C>G , LRG_717t1:c.543C>G (AQP2) | NP_000477.1:p.Cys181Trp | |
| NR_110590.1:n.257-299G>C (AQP5-AS1) | ||
| NR_110591.1:n.118-2559G>C (AQP5-AS1) | ||
| NM_000486.6:c.543C>G (AQP2) MANE Select | NP_000477.1:p.Cys181Trp |