Revel Score:
ENST00000199280 (MANE Select)
0.732
ENST00000550862
0.732
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49954663C>G , CM000674.2:g.49954663C>G | GRCh38 |
| NC_000012.11:g.50348446C>G , CM000674.1:g.50348446C>G | GRCh37 |
| NC_000012.10:g.48634713C>G | NCBI36 |
| NG_008913.1:g.8923C>G , LRG_717:g.8923C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.559C>G (AQP2) MANE Select | ENSP00000199280.3:p.Arg187Gly | |
| ENST00000199280.3:c.559C>G (AQP2) | ENSP00000199280.3:p.Arg187Gly | |
| ENST00000550862.1:c.685C>G (AQP2) | ENSP00000450022.1:p.Arg229Gly | |
| ENST00000551526.5:c.559C>G (AQP2) | ENSP00000447148.1:p.Arg187Gly | |
| NM_000486.5:c.559C>G , LRG_717t1:c.559C>G (AQP2) | NP_000477.1:p.Arg187Gly | |
| NR_110590.1:n.257-315G>C (AQP5-AS1) | ||
| NR_110591.1:n.118-2575G>C (AQP5-AS1) | ||
| NM_000486.6:c.559C>G (AQP2) MANE Select | NP_000477.1:p.Arg187Gly |