Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49955438T>G , CM000674.2:g.49955438T>G | GRCh38 |
| NC_000012.11:g.50349221T>G , CM000674.1:g.50349221T>G | GRCh37 |
| NC_000012.10:g.48635488T>G | NCBI36 |
| NG_008913.1:g.9698T>G , LRG_717:g.9698T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.646T>G (AQP2) MANE Select | ENSP00000199280.3:p.Ser216Ala | |
| ENST00000199280.3:c.646T>G (AQP2) | ENSP00000199280.3:p.Ser216Ala | |
| ENST00000551526.5:c.631+15T>G (AQP2) | ENSP00000447148.1:n.631+15T>G | |
| NM_000486.5:c.646T>G , LRG_717t1:c.646T>G (AQP2) | NP_000477.1:p.Ser216Ala | |
| NR_110590.1:n.257-1090A>C (AQP5-AS1) | ||
| NR_110591.1:n.118-3350A>C (AQP5-AS1) | ||
| NM_000486.6:c.646T>G (AQP2) MANE Select | NP_000477.1:p.Ser216Ala |