Linked Data
ClinVar Variation Id:
2488489
ClinVar RCV Id:
RCV003217489
dbSNP Id:
rs761562359
ExAC:
9:73151618 T / C
gnomAD v2:
9-73151618-T-C
gnomAD v4:
9-70536702-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.70536702T>C , CM000671.2:g.70536702T>C | GRCh38 |
| NC_000009.11:g.73151618T>C , CM000671.1:g.73151618T>C | GRCh37 |
| NC_000009.10:g.72341438T>C | NCBI36 |
| NG_047197.1:g.915223A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707140.1:c.4309A>G (TRPM3) | ENSP00000516762.1:p.Ile1437Val | |
| ENST00000704565.1:c.3966+420A>G (TRPM3) | ENSP00000515942.1:n.3966+420A>G | |
| ENST00000704566.1:c.3619+420A>G (TRPM3) | ENSP00000515943.1:n.3619+420A>G | |
| ENST00000704567.1:c.3496+420A>G (TRPM3) | ENSP00000515944.1:n.3496+420A>G | |
| ENST00000704568.1:c.4078+420A>G (TRPM3) | ENSP00000515945.1:n.4078+420A>G | |
| ENST00000704573.1:c.*174A>G (TRPM3) | ENSP00000515949.1:n.*174A>G | |
| ENST00000377110.9:c.4375A>G (TRPM3) | ENSP00000366314.4:p.Ile1459Val | |
| ENST00000377111.8:c.3955+420A>G (TRPM3) | ENSP00000366315.4:n.3955+420A>G | |
| ENST00000677594.1:c.3532+420A>G (TRPM3) | ENSP00000504011.1:n.3532+420A>G | |
| ENST00000677713.2:c.4411A>G (TRPM3) MANE Select | ENSP00000503830.2:p.Ile1471Val | |
| ENST00000357533.6:c.4387A>G (TRPM3) | ENSP00000350140.2:p.Ile1463Val | |
| ENST00000358082.7:c.3961A>G (TRPM3) | ENSP00000350791.3:p.Ile1321Val | |
| ENST00000360823.6:c.3961A>G (TRPM3) | ENSP00000354066.2:p.Ile1321Val | |
| ENST00000377105.5:c.3952A>G (TRPM3) | ENSP00000366309.1:p.Ile1318Val | |
| ENST00000377110.7:c.4375A>G (TRPM3) | ENSP00000366314.2:p.Ile1459Val | |
| ENST00000377111.6:c.3955+420A>G (TRPM3) | ENSP00000366315.2:n.3955+420A>G | |
| ENST00000396280.9:c.3922A>G (TRPM3) | ENSP00000379576.5:p.Ile1308Val | |
| ENST00000396285.5:c.3952A>G (TRPM3) | ENSP00000379581.1:p.Ile1318Val | |
| ENST00000396292.8:c.3991A>G (TRPM3) | ENSP00000379587.4:p.Ile1331Val | |
| ENST00000408909.6:c.3952A>G (TRPM3) | ENSP00000386127.2:p.Ile1318Val | |
| NM_001007471.2:c.4375A>G (TRPM3) | NP_001007472.2:p.Ile1459Val | |
| NM_020952.4:c.3916A>G (TRPM3) | NP_066003.3:p.Ile1306Val | |
| NM_024971.5:c.3952A>G (TRPM3) | NP_079247.5:p.Ile1318Val | |
| NM_206944.3:c.3886A>G (TRPM3) | NP_996827.3:p.Ile1296Val | |
| NM_206945.3:c.3922A>G (TRPM3) | NP_996828.3:p.Ile1308Val | |
| NM_206946.3:c.3991A>G (TRPM3) | NP_996829.3:p.Ile1331Val | |
| NM_206947.3:c.3961A>G (TRPM3) | NP_996830.3:p.Ile1321Val | |
| XM_011519035.1:c.4492A>G (TRPM3) | XP_011517337.1:p.Ile1498Val | |
| XM_011519036.1:c.4486A>G (TRPM3) | XP_011517338.1:p.Ile1496Val | |
| XM_011519037.1:c.4456A>G (TRPM3) | XP_011517339.1:p.Ile1486Val | |
| XM_011519038.1:c.4450A>G (TRPM3) | XP_011517340.1:p.Ile1484Val | |
| XM_011519039.1:c.4420A>G (TRPM3) | XP_011517341.1:p.Ile1474Val | |
| XM_011519040.1:c.4417A>G (TRPM3) | XP_011517342.1:p.Ile1473Val | |
| XM_011519041.1:c.4411A>G (TRPM3) | XP_011517343.1:p.Ile1471Val | |
| XM_011519042.1:c.4387A>G (TRPM3) | XP_011517344.1:p.Ile1463Val | |
| XM_011519043.1:c.4381A>G (TRPM3) | XP_011517345.1:p.Ile1461Val | |
| XM_011519044.1:c.4381A>G (TRPM3) | XP_011517346.1:p.Ile1461Val | |
| XM_011519045.1:c.4351A>G (TRPM3) | XP_011517347.1:p.Ile1451Val | |
| XM_011519046.1:c.4345A>G (TRPM3) | XP_011517348.1:p.Ile1449Val | |
| XM_011519047.1:c.3955+420A>G (TRPM3) | XP_011517349.1:n.3955+420A>G | |
| XR_929914.1:n.389-65305T>C (KLF9-DT) | ||
| NM_001007471.3:c.4375A>G (TRPM3) | NP_001007472.2:p.Ile1459Val | |
| NM_001366141.1:c.4381A>G (TRPM3) | NP_001353070.1:p.Ile1461Val | |
| NM_001366142.1:c.3997+420A>G (TRPM3) | NP_001353071.1:n.3997+420A>G | |
| NM_001366143.1:c.3961+420A>G (TRPM3) | NP_001353072.1:n.3961+420A>G | |
| NM_001366145.1:c.4411A>G (TRPM3) | NP_001353074.1:p.Ile1471Val | |
| NM_001366146.1:c.3991+420A>G (TRPM3) | NP_001353075.1:n.3991+420A>G | |
| NM_001366147.1:c.4486A>G (TRPM3) | NP_001353076.1:p.Ile1496Val | |
| NM_001366148.1:c.4036+420A>G (TRPM3) | NP_001353077.1:n.4036+420A>G | |
| NM_001366149.1:c.4381A>G (TRPM3) | NP_001353078.1:p.Ile1461Val | |
| NM_001366150.1:c.3925+420A>G (TRPM3) | NP_001353079.1:n.3925+420A>G | |
| NM_001366151.1:c.3955+420A>G (TRPM3) | NP_001353080.1:n.3955+420A>G | |
| NM_001366152.1:c.4066+420A>G (TRPM3) | NP_001353081.1:n.4066+420A>G | |
| NM_001366154.1:c.3532+420A>G (TRPM3) | NP_001353083.1:n.3532+420A>G | |
| NM_020952.5:c.3916A>G (TRPM3) | NP_066003.3:p.Ile1306Val | |
| NM_024971.6:c.3952A>G (TRPM3) | NP_079247.5:p.Ile1318Val | |
| NM_206944.4:c.3886A>G (TRPM3) | NP_996827.3:p.Ile1296Val | |
| NM_206945.4:c.3922A>G (TRPM3) | NP_996828.3:p.Ile1308Val | |
| NM_206946.4:c.3991A>G (TRPM3) | NP_996829.3:p.Ile1331Val | |
| NM_206947.4:c.3961A>G (TRPM3) | NP_996830.3:p.Ile1321Val | |
| XM_011519037.3:c.4456A>G (TRPM3) | XP_011517339.1:p.Ile1486Val | |
| XM_011519038.3:c.4450A>G (TRPM3) | XP_011517340.1:p.Ile1484Val | |
| XM_011519039.3:c.4420A>G (TRPM3) | XP_011517341.1:p.Ile1474Val | |
| XM_011519040.3:c.4417A>G (TRPM3) | XP_011517342.1:p.Ile1473Val | |
| XM_011519042.3:c.4387A>G (TRPM3) | XP_011517344.1:p.Ile1463Val | |
| XM_011519045.2:c.4351A>G (TRPM3) | XP_011517347.1:p.Ile1451Val | |
| XM_011519046.3:c.4345A>G (TRPM3) | XP_011517348.1:p.Ile1449Val | |
| XM_017015156.1:c.3124A>G (TRPM3) | XP_016870645.1:p.Ile1042Val | |
| XM_024447681.1:c.3094A>G (TRPM3) | XP_024303449.1:p.Ile1032Val | |
| XM_024447682.1:c.3088A>G (TRPM3) | XP_024303450.1:p.Ile1030Val | |
| XM_024447683.1:c.3058A>G (TRPM3) | XP_024303451.1:p.Ile1020Val | |
| XM_024447684.1:c.2704+420A>G (TRPM3) | XP_024303452.1:n.2704+420A>G | |
| XM_024447685.1:c.2674+420A>G (TRPM3) | XP_024303453.1:n.2674+420A>G | |
| XM_024447686.1:c.2668+420A>G (TRPM3) | XP_024303454.1:n.2668+420A>G | |
| XR_001746707.2:n.985-13577T>C (KLF9-DT) | ||
| XR_001746710.2:n.908-13577T>C (KLF9-DT) | ||
| XR_001746712.1:n.819-65305T>C (KLF9-DT) | ||
| XR_001746713.1:n.256-65305T>C (KLF9-DT) | ||
| XR_001746714.1:n.194-65305T>C (KLF9-DT) | ||
| XR_001746715.2:n.214-65305T>C (KLF9-DT) | ||
| XR_002956886.1:n.908-65305T>C (KLF9-DT) | ||
| XR_002956887.1:n.984+41992T>C (KLF9-DT) | ||
| NM_001007471.4:c.4375A>G (TRPM3) | NP_001007472.2:p.Ile1459Val | |
| NM_001366141.2:c.4381A>G (TRPM3) | NP_001353070.1:p.Ile1461Val | |
| NM_001366142.2:c.3997+420A>G (TRPM3) | NP_001353071.1:n.3997+420A>G | |
| NM_001366143.2:c.3961+420A>G (TRPM3) | NP_001353072.1:n.3961+420A>G | |
| NM_001366145.2:c.4411A>G (TRPM3) MANE Select | NP_001353074.1:p.Ile1471Val | |
| NM_001366146.2:c.3991+420A>G (TRPM3) | NP_001353075.1:n.3991+420A>G | |
| NM_001366147.2:c.4486A>G (TRPM3) | NP_001353076.1:p.Ile1496Val | |
| NM_001366148.2:c.4036+420A>G (TRPM3) | NP_001353077.1:n.4036+420A>G | |
| NM_001366149.2:c.4381A>G (TRPM3) | NP_001353078.1:p.Ile1461Val | |
| NM_001366150.2:c.3925+420A>G (TRPM3) | NP_001353079.1:n.3925+420A>G | |
| NM_001366151.2:c.3955+420A>G (TRPM3) | NP_001353080.1:n.3955+420A>G | |
| NM_001366152.2:c.4066+420A>G (TRPM3) | NP_001353081.1:n.4066+420A>G | |
| NM_001366154.2:c.3532+420A>G (TRPM3) | NP_001353083.1:n.3532+420A>G | |
| NM_020952.6:c.3916A>G (TRPM3) | NP_066003.3:p.Ile1306Val | |
| NM_206944.5:c.3886A>G (TRPM3) | NP_996827.3:p.Ile1296Val | |
| NM_206945.5:c.3922A>G (TRPM3) | NP_996828.3:p.Ile1308Val | |
| NM_206946.5:c.3991A>G (TRPM3) | NP_996829.3:p.Ile1331Val | |
| NM_024971.7:c.3952A>G (TRPM3) | NP_079247.5:p.Ile1318Val | |
| NM_206947.5:c.3961A>G (TRPM3) | NP_996830.3:p.Ile1321Val |