ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Revel Score:
ENST00000325103
0.785
ENST00000361490 (MANE Select)
0.785
ENST00000407891
0.785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98417664A>G , CM000672.2:g.98417664A>G | GRCh38 |
| NC_000010.10:g.100177421A>G , CM000672.1:g.100177421A>G | GRCh37 |
| NC_000010.9:g.100167411A>G | NCBI36 |
| NG_009646.1:g.34284T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699112.1:c.1643T>C | ENSP00000514137.1:p.Leu548Pro | |
| ENST00000699113.1:c.*1359T>C | ENSP00000514138.1:n.*1359T>C | |
| ENST00000699114.1:n.1890T>C | ||
| ENST00000699115.1:c.*580T>C | ENSP00000514139.1:n.*580T>C | |
| ENST00000699116.1:n.4471T>C | ||
| ENST00000699117.1:n.2655T>C | ||
| ENST00000699118.1:c.1616T>C | ENSP00000514140.1:p.Leu539Pro | |
| ENST00000699119.1:c.*1194T>C | ENSP00000514141.1:n.*1194T>C | |
| ENST00000699120.1:c.*1461T>C | ENSP00000514142.1:n.*1461T>C | |
| ENST00000699121.1:c.*1362T>C | ENSP00000514143.1:n.*1362T>C | |
| ENST00000699122.1:c.1430T>C | ENSP00000514144.1:p.Leu477Pro | |
| ENST00000699123.1:c.*1771T>C | ENSP00000514145.1:n.*1771T>C | |
| ENST00000699124.1:n.3406T>C | ||
| ENST00000699125.1:c.2033T>C | ENSP00000514146.1:p.Leu678Pro | |
| ENST00000699126.1:n.3984T>C | ||
| ENST00000699127.1:n.2330T>C | ||
| ENST00000699128.1:c.*1120T>C | ENSP00000514147.1:n.*1120T>C | |
| ENST00000699129.1:c.*1226T>C | ENSP00000514148.1:n.*1226T>C | |
| ENST00000699130.1:n.3376T>C | ||
| ENST00000699131.1:c.1835T>C | ENSP00000514149.1:p.Leu612Pro | |
| ENST00000699132.1:n.4298T>C | ||
| ENST00000699133.1:c.1736T>C | ENSP00000514150.1:p.Leu579Pro | |
| ENST00000699134.1:c.2261T>C | ENSP00000514151.1:p.Leu754Pro | |
| ENST00000699135.1:c.*1213T>C | ENSP00000514152.1:n.*1213T>C | |
| ENST00000699136.1:c.1904T>C | ENSP00000514153.1:p.Leu635Pro | |
| ENST00000699137.1:c.1616T>C | ENSP00000514154.1:p.Leu539Pro | |
| ENST00000699138.1:c.*1461T>C | ENSP00000514155.1:n.*1461T>C | |
| ENST00000699139.1:c.1742T>C | ENSP00000514156.1:p.Leu581Pro | |
| ENST00000699140.1:c.1904T>C | ENSP00000514157.1:p.Leu635Pro | |
| ENST00000699141.1:c.*1439T>C | ENSP00000514158.1:n.*1439T>C | |
| ENST00000699142.1:c.2003T>C | ENSP00000514159.1:p.Leu668Pro | |
| ENST00000699143.1:c.*1362T>C | ENSP00000514160.1:n.*1362T>C | |
| ENST00000699144.1:c.*1461T>C | ENSP00000514161.1:n.*1461T>C | |
| ENST00000699145.1:c.2003T>C | ENSP00000514162.1:p.Leu668Pro | |
| ENST00000699146.1:c.1988+15T>C | ENSP00000514164.1:n.1988+15T>C | |
| ENST00000699147.1:c.*1378T>C | ENSP00000514165.1:n.*1378T>C | |
| ENST00000699159.1:c.*1347+15T>C | ENSP00000514167.1:n.*1347+15T>C | |
| ENST00000361490.9:c.2003T>C MANE Select | ENSP00000355310.4:p.Leu668Pro | |
| ENST00000325103.10:c.2003T>C | ENSP00000326649.6:p.Leu668Pro | |
| ENST00000361490.8:c.2003T>C | ENSP00000355310.4:p.Leu668Pro | |
| ENST00000467246.5:n.2142T>C | ||
| ENST00000613394.4:c.2003T>C | ENSP00000477926.1:p.Leu668Pro | |
| NM_000195.3:c.2003T>C | NP_000186.2:p.Leu668Pro | |
| NM_000195.4:c.2003T>C | NP_000186.2:p.Leu668Pro | |
| NM_001311345.1:c.1031T>C | NP_001298274.1:p.Leu344Pro | |
| XM_005269755.2:c.2003T>C | XP_005269812.1:p.Leu668Pro | |
| XM_005269756.2:c.2003T>C | XP_005269813.1:p.Leu668Pro | |
| XM_005269757.3:c.2003T>C | XP_005269814.1:p.Leu668Pro | |
| XM_005269758.1:c.1904T>C | XP_005269815.1:p.Leu635Pro | |
| XM_005269759.1:c.1634T>C | XP_005269816.1:p.Leu545Pro | |
| XM_005269760.3:c.1031T>C | XP_005269817.1:p.Leu344Pro | |
| XM_005269761.1:c.1031T>C | XP_005269818.1:p.Leu344Pro | |
| XM_006717818.1:c.1742T>C | XP_006717881.1:p.Leu581Pro | |
| NM_001322476.1:c.2003T>C | NP_001309405.1:p.Leu668Pro | |
| NM_001322477.1:c.2003T>C | NP_001309406.1:p.Leu668Pro | |
| NM_001322478.1:c.1904T>C | NP_001309407.1:p.Leu635Pro | |
| NM_001322479.1:c.1904T>C | NP_001309408.1:p.Leu635Pro | |
| NM_001322480.1:c.1742T>C | NP_001309409.1:p.Leu581Pro | |
| NM_001322481.1:c.1742T>C | NP_001309410.1:p.Leu581Pro | |
| NM_001322482.1:c.1643T>C | NP_001309411.1:p.Leu548Pro | |
| NM_001322483.1:c.1634T>C | NP_001309412.1:p.Leu545Pro | |
| NM_001322484.1:c.1634T>C | NP_001309413.1:p.Leu545Pro | |
| NM_001322485.1:c.1535T>C | NP_001309414.1:p.Leu512Pro | |
| NM_001322487.1:c.1031T>C | NP_001309416.1:p.Leu344Pro | |
| NM_001322489.1:c.1031T>C | NP_001309418.1:p.Leu344Pro | |
| XM_005269757.4:c.2003T>C | XP_005269814.1:p.Leu668Pro | |
| XM_017016170.1:c.1643T>C | XP_016871659.1:p.Leu548Pro | |
| XM_017016171.2:c.1535T>C | XP_016871660.1:p.Leu512Pro | |
| XM_017016172.2:c.1031T>C | XP_016871661.1:p.Leu344Pro | |
| XM_024447971.1:c.2033T>C | XP_024303739.1:p.Leu678Pro | |
| XM_024447972.1:c.1031T>C | XP_024303740.1:p.Leu344Pro | |
| XR_001747098.1:n.2272T>C | ||
| XR_001747099.2:n.2250T>C | ||
| XR_001747101.2:n.2151T>C | ||
| NM_000195.5:c.2003T>C MANE Select | NP_000186.2:p.Leu668Pro | |
| NM_001311345.2:c.1031T>C | NP_001298274.1:p.Leu344Pro | |
| NM_001322476.2:c.2003T>C | NP_001309405.1:p.Leu668Pro | |
| NM_001322477.2:c.2003T>C | NP_001309406.1:p.Leu668Pro | |
| NM_001322478.2:c.1904T>C | NP_001309407.1:p.Leu635Pro | |
| NM_001322479.2:c.1904T>C | NP_001309408.1:p.Leu635Pro | |
| NM_001322480.2:c.1742T>C | NP_001309409.1:p.Leu581Pro | |
| NM_001322481.2:c.1742T>C | NP_001309410.1:p.Leu581Pro | |
| NM_001322482.2:c.1643T>C | NP_001309411.1:p.Leu548Pro | |
| NM_001322483.2:c.1634T>C | NP_001309412.1:p.Leu545Pro | |
| NM_001322484.2:c.1634T>C | NP_001309413.1:p.Leu545Pro | |
| NM_001322485.2:c.1535T>C | NP_001309414.1:p.Leu512Pro | |
| NM_001322487.2:c.1031T>C | NP_001309416.1:p.Leu344Pro | |
| NM_001322489.2:c.1031T>C | NP_001309418.1:p.Leu344Pro |