Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49962151T>G , CM000674.2:g.49962151T>G | GRCh38 |
| NC_000012.11:g.50355934T>G , CM000674.1:g.50355934T>G | GRCh37 |
| NC_000012.10:g.48642201T>G | NCBI36 |
| NG_033883.1:g.5656T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001651.4:c.134T>G (AQP5) MANE Select | NP_001642.1:p.Ile45Ser |
| ENST00000293599.7:c.134T>G (AQP5) MANE Select | ENSP00000293599.5:p.Ile45Ser |
| NM_001651.3:c.134T>G (AQP5) | NP_001642.1:p.Ile45Ser |
| NR_110589.1:n.258+516A>C (AQP5-AS1) | |
| NR_110590.1:n.256+516A>C (AQP5-AS1) | |
| NR_110591.1:n.117+516A>C (AQP5-AS1) | |
| ENST00000293599.6:c.134T>G (AQP5) | ENSP00000293599.5:p.Ile45Ser |
| XM_005268838.2:c.134T>G (AQP5) | XP_005268895.1:p.Ile45Ser |