Linked Data
dbSNP Id:
rs2414539
gnomAD v2:
15-58453506-A-T
gnomAD v3:
15-58161307-A-T
gnomAD v4:
15-58161307-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58161307A>T , CM000677.2:g.58161307A>T | GRCh38 |
| NC_000015.9:g.58453506A>T , CM000677.1:g.58453506A>T | GRCh37 |
| NC_000015.8:g.56240798A>T | NCBI36 |
| NG_011975.1:g.28099A>T | |
| NG_011975.2:g.28099A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219919.9:c.112-5366A>T (AQP9) MANE Select | ENSP00000219919.4:n.112-5366A>T | |
| ENST00000219919.8:c.112-5366A>T (AQP9) | ENSP00000219919.4:n.112-5366A>T | |
| ENST00000536493.1:c.112-5366A>T (AQP9) | ENSP00000441390.1:n.112-5366A>T | |
| ENST00000558073.5:n.266-53839T>A (ALDH1A2) | ||
| ENST00000558231.5:c.30+117867T>A (ALDH1A2) | ENSP00000453600.1:n.30+117867T>A | |
| ENST00000558239.5:c.-171-147026T>A (ALDH1A2) | ENSP00000453292.1:n.-171-147026T>A | |
| ENST00000558504.1:n.396+2645T>A (ALDH1A2) | ||
| ENST00000558772.5:c.-84-5366A>T (AQP9) | ENSP00000452673.1:n.-84-5366A>T | |
| ENST00000559297.5:n.149-22735T>A (ALDH1A2) | ||
| ENST00000560122.5:n.266-22735T>A (ALDH1A2) | ||
| ENST00000560863.5:n.416-22735T>A (ALDH1A2) | ||
| NM_020980.3:c.112-5366A>T (AQP9) | NP_066190.2:n.112-5366A>T | |
| XR_429535.2:n.2098T>A | ||
| XR_932303.1:n.281+2645T>A | ||
| NM_001320635.1:c.112-5366A>T (AQP9) | NP_001307564.1:n.112-5366A>T | |
| NM_001320636.1:c.-84-5366A>T (AQP9) | NP_001307565.1:n.-84-5366A>T | |
| NM_020980.4:c.112-5366A>T (AQP9) | NP_066190.2:n.112-5366A>T | |
| XR_001751559.2:n.6726-53839T>A | ||
| NM_001320635.2:c.112-5366A>T (AQP9) | NP_001307564.1:n.112-5366A>T | |
| NM_020980.5:c.112-5366A>T (AQP9) MANE Select | NP_066190.2:n.112-5366A>T |