COSMIC:
COSM4002743 (not active)
COSM4002744 (not active)
COSM4002745 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50094319 (AMR)
Genomes Max Group AF
0.455432 (AMR)
Exomes Max Group AF
0.51425757 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52550771T>C , CM000665.2:g.52550771T>C | GRCh38 |
| NC_000003.11:g.52584787T>C , CM000665.1:g.52584787T>C | GRCh37 |
| NC_000003.10:g.52559827T>C | NCBI36 |
| NG_032108.1:g.140080A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707071.1:c.4701A>G (PBRM1) MANE Select | ENSP00000516722.1:p.Pro1567= | |
| ENST00000296302.11:c.4656A>G (PBRM1) | ENSP00000296302.7:p.Pro1552= | |
| ENST00000337303.8:c.4335A>G (PBRM1) | ENSP00000338302.4:p.Pro1445= | |
| ENST00000356770.8:c.4395A>G (PBRM1) | ENSP00000349213.4:p.Pro1465= | |
| ENST00000394830.7:c.4335A>G (PBRM1) | ENSP00000378307.3:p.Pro1445= | |
| ENST00000409057.5:c.4491A>G (PBRM1) | ENSP00000386593.1:p.Pro1497= | |
| ENST00000409114.7:c.4545A>G (PBRM1) | ENSP00000386643.3:p.Pro1515= | |
| ENST00000409767.5:c.4380A>G (PBRM1) | ENSP00000386601.1:p.Pro1460= | |
| ENST00000410007.5:c.4416A>G (PBRM1) | ENSP00000386529.1:p.Pro1472= | |
| ENST00000412587.5:c.*1705A>G (PBRM1) | ENSP00000404579.1:n.*1705A>G | |
| ENST00000476842.1:c.151+13865T>C (UQCC5) | ENSP00000418000.1:n.151+13865T>C | |
| NM_018313.4:c.4335A>G (PBRM1) | NP_060783.3:p.Pro1445= | |
| XM_005265275.3:c.4755A>G (PBRM1) | XP_005265332.1:p.Pro1585= | |
| XM_005265279.3:c.4701A>G (PBRM1) | XP_005265336.1:p.Pro1567= | |
| XM_005265280.2:c.4701A>G (PBRM1) | XP_005265337.1:p.Pro1567= | |
| XM_005265282.2:c.4701A>G (PBRM1) | XP_005265339.1:p.Pro1567= | |
| XM_005265283.2:c.4701A>G (PBRM1) | XP_005265340.1:p.Pro1567= | |
| XM_006713220.2:c.4755A>G (PBRM1) | XP_006713283.1:p.Pro1585= | |
| XM_006713221.2:c.4755A>G (PBRM1) | XP_006713284.1:p.Pro1585= | |
| XM_011533900.1:c.4764A>G (PBRM1) | XP_011532202.1:p.Pro1588= | |
| XM_011533901.1:c.4764A>G (PBRM1) | XP_011532203.1:p.Pro1588= | |
| XM_011533902.1:c.4764A>G (PBRM1) | XP_011532204.1:p.Pro1588= | |
| XM_011533903.1:c.4764A>G (PBRM1) | XP_011532205.1:p.Pro1588= | |
| XM_011533904.1:c.4761A>G (PBRM1) | XP_011532206.1:p.Pro1587= | |
| XM_011533905.1:c.4761A>G (PBRM1) | XP_011532207.1:p.Pro1587= | |
| XM_011533906.1:c.4719A>G (PBRM1) | XP_011532208.1:p.Pro1573= | |
| XM_011533907.1:c.4701A>G (PBRM1) | XP_011532209.1:p.Pro1567= | |
| XM_011533908.1:c.4701A>G (PBRM1) | XP_011532210.1:p.Pro1567= | |
| XM_011533909.1:c.4689A>G (PBRM1) | XP_011532211.1:p.Pro1563= | |
| XM_011533910.1:c.4668A>G (PBRM1) | XP_011532212.1:p.Pro1556= | |
| XM_011533911.1:c.4644A>G (PBRM1) | XP_011532213.1:p.Pro1548= | |
| XM_011533912.1:c.4608A>G (PBRM1) | XP_011532214.1:p.Pro1536= | |
| XM_011533913.1:c.4599A>G (PBRM1) | XP_011532215.1:p.Pro1533= | |
| XM_011533914.1:c.4554A>G (PBRM1) | XP_011532216.1:p.Pro1518= | |
| XM_011533915.1:c.4551A>G (PBRM1) | XP_011532217.1:p.Pro1517= | |
| XM_011533916.1:c.4479A>G (PBRM1) | XP_011532218.1:p.Pro1493= | |
| XM_011533917.1:c.4458A>G (PBRM1) | XP_011532219.1:p.Pro1486= | |
| XM_011533918.1:c.4443A>G (PBRM1) | XP_011532220.1:p.Pro1481= | |
| XM_011533919.1:c.4398A>G (PBRM1) | XP_011532221.1:p.Pro1466= | |
| XR_940466.1:n.5328A>G (PBRM1) | ||
| NM_001350074.1:c.4443A>G (PBRM1) | NP_001337003.1:p.Pro1481= | |
| NM_001350075.1:c.4491A>G (PBRM1) | NP_001337004.1:p.Pro1497= | |
| NM_001350076.1:c.4440A>G (PBRM1) | NP_001337005.1:p.Pro1480= | |
| NM_001350077.1:c.4434A>G (PBRM1) | NP_001337006.1:p.Pro1478= | |
| NM_001350078.1:c.4443A>G (PBRM1) | NP_001337007.1:p.Pro1481= | |
| NM_001350079.1:c.4323A>G (PBRM1) | NP_001337008.1:p.Pro1441= | |
| NM_001366070.1:c.4443A>G (PBRM1) | NP_001352999.1:p.Pro1481= | |
| NM_001366071.1:c.4563A>G (PBRM1) | NP_001353000.1:p.Pro1521= | |
| NM_001366072.1:c.4398A>G (PBRM1) | NP_001353001.1:p.Pro1466= | |
| NM_001366073.1:c.4389A>G (PBRM1) | NP_001353002.1:p.Pro1463= | |
| NM_001366074.1:c.4386A>G (PBRM1) | NP_001353003.1:p.Pro1462= | |
| NM_001366075.1:c.4368A>G (PBRM1) | NP_001353004.1:p.Pro1456= | |
| NM_001366076.1:c.4338A>G (PBRM1) | NP_001353005.1:p.Pro1446= | |
| NM_181042.4:c.4335A>G (PBRM1) | NP_851385.1:p.Pro1445= | |
| XM_005265279.5:c.4701A>G (PBRM1) | XP_005265336.1:p.Pro1567= | |
| XM_005265280.3:c.4701A>G (PBRM1) | XP_005265337.1:p.Pro1567= | |
| XM_005265282.4:c.4701A>G (PBRM1) | XP_005265339.1:p.Pro1567= | |
| XM_011533900.3:c.4764A>G (PBRM1) | XP_011532202.1:p.Pro1588= | |
| XM_011533902.3:c.4764A>G (PBRM1) | XP_011532204.1:p.Pro1588= | |
| XM_011533903.3:c.4764A>G (PBRM1) | XP_011532205.1:p.Pro1588= | |
| XM_017006725.1:c.4791A>G (PBRM1) | XP_016862214.1:p.Pro1597= | |
| XM_017006726.1:c.4791A>G (PBRM1) | XP_016862215.1:p.Pro1597= | |
| XM_017006727.1:c.4791A>G (PBRM1) | XP_016862216.1:p.Pro1597= | |
| XM_017006728.1:c.4791A>G (PBRM1) | XP_016862217.1:p.Pro1597= | |
| XM_017006729.2:c.4788A>G (PBRM1) | XP_016862218.1:p.Pro1596= | |
| XM_017006730.1:c.4782A>G (PBRM1) | XP_016862219.1:p.Pro1594= | |
| XM_017006731.1:c.4782A>G (PBRM1) | XP_016862220.1:p.Pro1594= | |
| XM_017006732.1:c.4761A>G (PBRM1) | XP_016862221.1:p.Pro1587= | |
| XM_017006733.2:c.4752A>G (PBRM1) | XP_016862222.1:p.Pro1584= | |
| XM_017006734.2:c.4752A>G (PBRM1) | XP_016862223.1:p.Pro1584= | |
| XM_017006735.2:c.4746A>G (PBRM1) | XP_016862224.1:p.Pro1582= | |
| XM_017006736.1:c.4743A>G (PBRM1) | XP_016862225.1:p.Pro1581= | |
| XM_017006737.1:c.4728A>G (PBRM1) | XP_016862226.1:p.Pro1576= | |
| XM_017006738.2:c.4728A>G (PBRM1) | XP_016862227.1:p.Pro1576= | |
| XM_017006739.1:c.4728A>G (PBRM1) | XP_016862228.1:p.Pro1576= | |
| XM_017006740.1:c.4728A>G (PBRM1) | XP_016862229.1:p.Pro1576= | |
| XM_017006741.2:c.4719A>G (PBRM1) | XP_016862230.1:p.Pro1573= | |
| XM_017006742.1:c.4719A>G (PBRM1) | XP_016862231.1:p.Pro1573= | |
| XM_017006743.2:c.4716A>G (PBRM1) | XP_016862232.1:p.Pro1572= | |
| XM_017006744.1:c.4710A>G (PBRM1) | XP_016862233.1:p.Pro1570= | |
| XM_017006745.2:c.4701A>G (PBRM1) | XP_016862234.1:p.Pro1567= | |
| XM_017006746.2:c.4701A>G (PBRM1) | XP_016862235.1:p.Pro1567= | |
| XM_017006747.1:c.4695A>G (PBRM1) | XP_016862236.1:p.Pro1565= | |
| XM_017006748.1:c.4656A>G (PBRM1) | XP_016862237.1:p.Pro1552= | |
| XM_017006749.1:c.4656A>G (PBRM1) | XP_016862238.1:p.Pro1552= | |
| XM_017006750.1:c.4656A>G (PBRM1) | XP_016862239.1:p.Pro1552= | |
| XM_017006751.2:c.4644A>G (PBRM1) | XP_016862240.1:p.Pro1548= | |
| XM_017006752.1:c.4635A>G (PBRM1) | XP_016862241.1:p.Pro1545= | |
| XM_017006753.2:c.4626A>G (PBRM1) | XP_016862242.1:p.Pro1542= | |
| XM_017006754.1:c.4608A>G (PBRM1) | XP_016862243.1:p.Pro1536= | |
| XM_017006755.2:c.4554A>G (PBRM1) | XP_016862244.1:p.Pro1518= | |
| XM_017006756.2:c.4551A>G (PBRM1) | XP_016862245.1:p.Pro1517= | |
| XM_017006758.1:c.4491A>G (PBRM1) | XP_016862247.1:p.Pro1497= | |
| XM_017006759.2:c.4479A>G (PBRM1) | XP_016862248.1:p.Pro1493= | |
| XM_017006764.2:c.4398A>G (PBRM1) | XP_016862253.1:p.Pro1466= | |
| XM_024453618.1:c.4755A>G (PBRM1) | XP_024309386.1:p.Pro1585= | |
| XM_024453619.1:c.4755A>G (PBRM1) | XP_024309387.1:p.Pro1585= | |
| XR_001740194.2:n.5708A>G (PBRM1) | ||
| NM_001350074.2:c.4443A>G (PBRM1) | NP_001337003.1:p.Pro1481= | |
| NM_001350075.2:c.4491A>G (PBRM1) | NP_001337004.1:p.Pro1497= | |
| NM_001350076.2:c.4440A>G (PBRM1) | NP_001337005.1:p.Pro1480= | |
| NM_001350077.2:c.4434A>G (PBRM1) | NP_001337006.1:p.Pro1478= | |
| NM_001350078.2:c.4443A>G (PBRM1) | NP_001337007.1:p.Pro1481= | |
| NM_001350079.2:c.4323A>G (PBRM1) | NP_001337008.1:p.Pro1441= | |
| NM_001366070.2:c.4443A>G (PBRM1) | NP_001352999.1:p.Pro1481= | |
| NM_001366071.2:c.4563A>G (PBRM1) | NP_001353000.1:p.Pro1521= | |
| NM_001366072.2:c.4398A>G (PBRM1) | NP_001353001.1:p.Pro1466= | |
| NM_001366073.2:c.4389A>G (PBRM1) | NP_001353002.1:p.Pro1463= | |
| NM_001366074.2:c.4386A>G (PBRM1) | NP_001353003.1:p.Pro1462= | |
| NM_001366075.2:c.4368A>G (PBRM1) | NP_001353004.1:p.Pro1456= | |
| NM_001366076.2:c.4338A>G (PBRM1) | NP_001353005.1:p.Pro1446= | |
| NM_018313.5:c.4335A>G (PBRM1) | NP_060783.3:p.Pro1445= | |
| NM_181042.5:c.4335A>G (PBRM1) | NP_851385.1:p.Pro1445= | |
| NM_001394867.1:c.4656A>G (PBRM1) | NP_001381796.1:p.Pro1552= | |
| NM_001394868.1:c.4656A>G (PBRM1) | NP_001381797.1:p.Pro1552= | |
| NM_001394869.1:c.4656A>G (PBRM1) | NP_001381798.1:p.Pro1552= | |
| NM_001394870.1:c.4545A>G (PBRM1) | NP_001381799.1:p.Pro1515= | |
| NM_001394871.1:c.4500A>G (PBRM1) | NP_001381800.1:p.Pro1500= | |
| NM_001394872.1:c.4491A>G (PBRM1) | NP_001381801.1:p.Pro1497= | |
| NM_001394873.1:c.4488A>G (PBRM1) | NP_001381802.1:p.Pro1496= | |
| NM_001394874.1:c.4488A>G (PBRM1) | NP_001381803.1:p.Pro1496= | |
| NM_001394875.1:c.4335A>G (PBRM1) | NP_001381804.1:p.Pro1445= | |
| NM_001394876.1:c.4332A>G (PBRM1) | NP_001381805.1:p.Pro1444= | |
| NM_001394877.1:c.4332A>G (PBRM1) | NP_001381806.1:p.Pro1444= | |
| NM_001394878.1:c.4299A>G (PBRM1) | NP_001381807.1:p.Pro1433= | |
| NM_001400470.1:c.4656A>G (PBRM1) | NP_001387399.1:p.Pro1552= | |
| NM_001400471.1:c.4545A>G (PBRM1) | NP_001387400.1:p.Pro1515= | |
| NM_001400472.1:c.4512A>G (PBRM1) | NP_001387401.1:p.Pro1504= | |
| NM_001400473.1:c.4497A>G (PBRM1) | NP_001387402.1:p.Pro1499= | |
| NM_001400474.1:c.4491A>G (PBRM1) | NP_001387403.1:p.Pro1497= | |
| NM_001400475.1:c.4491A>G (PBRM1) | NP_001387404.1:p.Pro1497= | |
| NM_001400479.1:c.4491A>G (PBRM1) | NP_001387408.1:p.Pro1497= | |
| NM_001400481.1:c.4488A>G (PBRM1) | NP_001387410.1:p.Pro1496= | |
| NM_001400484.1:c.4416A>G (PBRM1) | NP_001387413.1:p.Pro1472= | |
| NM_001400487.1:c.4395A>G (PBRM1) | NP_001387416.1:p.Pro1465= | |
| NM_001400490.1:c.4260A>G (PBRM1) | NP_001387419.1:p.Pro1420= | |
| NM_001400496.1:c.4335A>G (PBRM1) | NP_001387425.1:p.Pro1445= | |
| NM_001400500.1:c.4335A>G (PBRM1) | NP_001387429.1:p.Pro1445= | |
| NM_001400501.1:c.4335A>G (PBRM1) | NP_001387430.1:p.Pro1445= | |
| NM_001400504.1:c.4260A>G (PBRM1) | NP_001387433.1:p.Pro1420= | |
| NR_174502.1:n.4803A>G (PBRM1) |