gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14073026 (AMR)
Genomes Max Group AF
0.14073026 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58179780G>C , CM000677.2:g.58179780G>C | GRCh38 |
| NC_000015.9:g.58471979G>C , CM000677.1:g.58471979G>C | GRCh37 |
| NC_000015.8:g.56259271G>C | NCBI36 |
| NG_011975.1:g.46572G>C | |
| NG_011975.2:g.46572G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219919.9:c.713+435G>C (AQP9) MANE Select | ENSP00000219919.4:n.713+435G>C | |
| ENST00000219919.8:c.713+435G>C (AQP9) | ENSP00000219919.4:n.713+435G>C | |
| ENST00000536493.1:c.713+435G>C (AQP9) | ENSP00000441390.1:n.713+435G>C | |
| ENST00000558073.5:n.265+66355C>G (ALDH1A2) | ||
| ENST00000558231.5:c.30+99394C>G (ALDH1A2) | ENSP00000453600.1:n.30+99394C>G | |
| ENST00000558239.5:c.-171-165499C>G (ALDH1A2) | ENSP00000453292.1:n.-171-165499C>G | |
| ENST00000558504.1:n.55-12984C>G (ALDH1A2) | ||
| ENST00000558772.5:c.518+435G>C (AQP9) | ENSP00000452673.1:n.518+435G>C | |
| ENST00000559297.5:n.149-41208C>G (ALDH1A2) | ||
| ENST00000560122.5:n.266-41208C>G (ALDH1A2) | ||
| ENST00000560863.5:n.416-41208C>G (ALDH1A2) | ||
| NM_020980.3:c.713+435G>C (AQP9) | NP_066190.2:n.713+435G>C | |
| NM_001320635.1:c.496-4181G>C (AQP9) | NP_001307564.1:n.496-4181G>C | |
| NM_001320636.1:c.518+435G>C (AQP9) | NP_001307565.1:n.518+435G>C | |
| NM_020980.4:c.713+435G>C (AQP9) | NP_066190.2:n.713+435G>C | |
| XR_001751559.2:n.6725+66355C>G | ||
| NM_001320635.2:c.496-4181G>C (AQP9) | NP_001307564.1:n.496-4181G>C | |
| NM_020980.5:c.713+435G>C (AQP9) MANE Select | NP_066190.2:n.713+435G>C |