Linked Data
ClinVar Variation Id:
17829
ClinVar RCV Id:
RCV000019407
dbSNP Id:
rs104894329
gnomAD v2:
12-50349221-T-C
gnomAD v4:
12-49955438-T-C
PubMed:
PMID:8140421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49955438T>C , CM000674.2:g.49955438T>C | GRCh38 |
| NC_000012.11:g.50349221T>C , CM000674.1:g.50349221T>C | GRCh37 |
| NC_000012.10:g.48635488T>C | NCBI36 |
| NG_008913.1:g.9698T>C , LRG_717:g.9698T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000199280.4:c.646T>C (AQP2) MANE Select | ENSP00000199280.3:p.Ser216Pro | |
| ENST00000199280.3:c.646T>C (AQP2) | ENSP00000199280.3:p.Ser216Pro | |
| ENST00000551526.5:c.631+15T>C (AQP2) | ENSP00000447148.1:n.631+15T>C | |
| NM_000486.5:c.646T>C , LRG_717t1:c.646T>C (AQP2) | NP_000477.1:p.Ser216Pro | |
| NR_110590.1:n.257-1090A>G (AQP5-AS1) | ||
| NR_110591.1:n.118-3350A>G (AQP5-AS1) | ||
| NM_000486.6:c.646T>C (AQP2) MANE Select | NP_000477.1:p.Ser216Pro |