Linked Data
ClinVar Variation Id:
285666
dbSNP Id:
rs370879515
ExAC:
12:50349338 C / T
gnomAD v2:
12-50349338-C-T
gnomAD v3:
12-49955555-C-T
gnomAD v4:
12-49955555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49955555C>T , CM000674.2:g.49955555C>T | GRCh38 |
| NC_000012.11:g.50349338C>T , CM000674.1:g.50349338C>T | GRCh37 |
| NC_000012.10:g.48635605C>T | NCBI36 |
| NG_008913.1:g.9815C>T , LRG_717:g.9815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000199280.4:c.763C>T (AQP2) MANE Select | ENSP00000199280.3:p.Gln255Ter | |
| ENST00000199280.3:c.763C>T (AQP2) | ENSP00000199280.3:p.Gln255Ter | |
| ENST00000551526.5:c.631+132C>T (AQP2) | ENSP00000447148.1:n.631+132C>T | |
| NM_000486.5:c.763C>T , LRG_717t1:c.763C>T (AQP2) | NP_000477.1:p.Gln255Ter | |
| NR_110590.1:n.257-1207G>A (AQP5-AS1) | ||
| NR_110591.1:n.118-3467G>A (AQP5-AS1) | ||
| NM_000486.6:c.763C>T (AQP2) MANE Select | NP_000477.1:p.Gln255Ter |