Linked Data
ClinVar Variation Id:
17836
ClinVar RCV Id:
RCV000019414
dbSNP Id:
rs104894332
PubMed:
PMID:9649557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49955564G>A , CM000674.2:g.49955564G>A | GRCh38 |
| NC_000012.11:g.50349347G>A , CM000674.1:g.50349347G>A | GRCh37 |
| NC_000012.10:g.48635614G>A | NCBI36 |
| NG_008913.1:g.9824G>A , LRG_717:g.9824G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000199280.4:c.772G>A (AQP2) MANE Select | ENSP00000199280.3:p.Glu258Lys | |
| ENST00000199280.3:c.772G>A (AQP2) | ENSP00000199280.3:p.Glu258Lys | |
| ENST00000551526.5:c.631+141G>A (AQP2) | ENSP00000447148.1:n.631+141G>A | |
| NM_000486.5:c.772G>A , LRG_717t1:c.772G>A (AQP2) | NP_000477.1:p.Glu258Lys | |
| NR_110590.1:n.257-1216C>T (AQP5-AS1) | ||
| NR_110591.1:n.118-3476C>T (AQP5-AS1) | ||
| NM_000486.6:c.772G>A (AQP2) MANE Select | NP_000477.1:p.Glu258Lys |