Revel Score:
ENST00000199280 (MANE Select)
0.605
ENST00000550862
0.605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49954672G>A , CM000674.2:g.49954672G>A | GRCh38 |
| NC_000012.11:g.50348455G>A , CM000674.1:g.50348455G>A | GRCh37 |
| NC_000012.10:g.48634722G>A | NCBI36 |
| NG_008913.1:g.8932G>A , LRG_717:g.8932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.568G>A (AQP2) MANE Select | ENSP00000199280.3:p.Ala190Thr | |
| ENST00000199280.3:c.568G>A (AQP2) | ENSP00000199280.3:p.Ala190Thr | |
| ENST00000550862.1:c.694G>A (AQP2) | ENSP00000450022.1:p.Ala232Thr | |
| ENST00000551526.5:c.568G>A (AQP2) | ENSP00000447148.1:p.Ala190Thr | |
| NM_000486.5:c.568G>A , LRG_717t1:c.568G>A (AQP2) | NP_000477.1:p.Ala190Thr | |
| NR_110590.1:n.257-324C>T (AQP5-AS1) | ||
| NR_110591.1:n.118-2584C>T (AQP5-AS1) | ||
| NM_000486.6:c.568G>A (AQP2) MANE Select | NP_000477.1:p.Ala190Thr |