Revel Score:
ENST00000532317
0.549
ENST00000526033
0.549
ENST00000447890
0.549
ENST00000393346 (MANE Select)
0.549
ENST00000528398
0.549
ENST00000356360
0.549
ENST00000530692
0.431
ENST00000529016
0.431
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027068 (NFE)
Genomes Max Group AF
0.00024285 (NFE)
Exomes Max Group AF
0.00026653 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.85981157G>T , CM000673.2:g.85981157G>T | GRCh38 |
| NC_000011.9:g.85692200G>T , CM000673.1:g.85692200G>T | GRCh37 |
| NC_000011.8:g.85369848G>T | NCBI36 |
| NG_028942.1:g.93724C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393346.8:c.1751C>A MANE Select | ENSP00000377015.3:p.Pro584Gln | |
| ENST00000356360.9:c.1751C>A | ENSP00000348718.5:p.Pro584Gln | |
| ENST00000393346.7:c.1751C>A | ENSP00000377015.3:p.Pro584Gln | |
| ENST00000526033.5:c.1730C>A | ENSP00000433846.1:p.Pro577Gln | |
| ENST00000526961.5:c.561C>A | ||
| ENST00000528398.5:c.1448C>A | ENSP00000434884.1:p.Pro483Gln | |
| ENST00000529016.5:c.691C>A | ||
| ENST00000529760.5:c.693C>A | ||
| ENST00000530542.1:c.843C>A | ||
| ENST00000530692.5:c.337C>A | ||
| ENST00000532317.5:c.1601C>A | ENSP00000436958.1:p.Pro534Gln | |
| ENST00000532603.5:c.255C>A | ||
| ENST00000630913.2:c.*1357C>A | ENSP00000487119.1:n.*1357C>A | |
| NM_001008660.2:c.1601C>A | NP_001008660.1:p.Pro534Gln | |
| NM_001206946.1:c.1730C>A | NP_001193875.1:p.Pro577Gln | |
| NM_001206947.1:c.1448C>A | NP_001193876.1:p.Pro483Gln | |
| NM_007166.3:c.1751C>A | NP_009097.2:p.Pro584Gln | |
| XM_005274322.2:c.1751C>A | XP_005274379.1:p.Pro584Gln | |
| XM_005274323.2:c.1736C>A | XP_005274380.1:p.Pro579Gln | |
| XM_005274324.2:c.1751C>A | XP_005274381.1:p.Pro584Gln | |
| XM_005274325.2:c.1736C>A | XP_005274382.1:p.Pro579Gln | |
| XM_005274326.2:c.1751C>A | XP_005274383.1:p.Pro584Gln | |
| XM_005274327.2:c.1751C>A | XP_005274384.1:p.Pro584Gln | |
| XM_005274328.2:c.1736C>A | XP_005274385.1:p.Pro579Gln | |
| XM_005274329.2:c.1736C>A | XP_005274386.1:p.Pro579Gln | |
| XM_005274330.2:c.1601C>A | XP_005274387.1:p.Pro534Gln | |
| XM_005274331.2:c.1751C>A | XP_005274388.1:p.Pro584Gln | |
| XM_005274332.2:c.1586C>A | XP_005274389.1:p.Pro529Gln | |
| XM_005274333.2:c.1601C>A | XP_005274390.1:p.Pro534Gln | |
| XM_005274334.2:c.1736C>A | XP_005274391.1:p.Pro579Gln | |
| XM_005274335.2:c.1586C>A | XP_005274392.1:p.Pro529Gln | |
| XM_005274336.2:c.1586C>A | XP_005274393.1:p.Pro529Gln | |
| XM_005274337.2:c.1751C>A | XP_005274394.1:p.Pro584Gln | |
| XM_005274340.2:c.1601C>A | XP_005274397.1:p.Pro534Gln | |
| XM_006718699.2:c.1730C>A | XP_006718762.1:p.Pro577Gln | |
| XM_006718700.2:c.1715C>A | XP_006718763.1:p.Pro572Gln | |
| XM_006718701.2:c.1730C>A | XP_006718764.1:p.Pro577Gln | |
| XM_011545293.1:c.1493C>A | XP_011543595.1:p.Pro498Gln | |
| XM_005274322.3:c.1751C>A | XP_005274379.1:p.Pro584Gln | |
| XM_005274323.3:c.1736C>A | XP_005274380.1:p.Pro579Gln | |
| XM_005274324.3:c.1751C>A | XP_005274381.1:p.Pro584Gln | |
| XM_005274325.3:c.1736C>A | XP_005274382.1:p.Pro579Gln | |
| XM_005274326.3:c.1751C>A | XP_005274383.1:p.Pro584Gln | |
| XM_005274327.3:c.1751C>A | XP_005274384.1:p.Pro584Gln | |
| XM_005274328.3:c.1736C>A | XP_005274385.1:p.Pro579Gln | |
| XM_005274329.4:c.1736C>A | XP_005274386.1:p.Pro579Gln | |
| XM_005274330.3:c.1601C>A | XP_005274387.1:p.Pro534Gln | |
| XM_005274331.3:c.1751C>A | XP_005274388.1:p.Pro584Gln | |
| XM_005274332.3:c.1586C>A | XP_005274389.1:p.Pro529Gln | |
| XM_005274333.3:c.1601C>A | XP_005274390.1:p.Pro534Gln | |
| XM_005274334.3:c.1736C>A | XP_005274391.1:p.Pro579Gln | |
| XM_005274335.3:c.1586C>A | XP_005274392.1:p.Pro529Gln | |
| XM_005274336.3:c.1586C>A | XP_005274393.1:p.Pro529Gln | |
| XM_005274337.3:c.1751C>A | XP_005274394.1:p.Pro584Gln | |
| XM_005274340.3:c.1601C>A | XP_005274397.1:p.Pro534Gln | |
| XM_006718699.3:c.1730C>A | XP_006718762.1:p.Pro577Gln | |
| XM_006718700.3:c.1715C>A | XP_006718763.1:p.Pro572Gln | |
| XM_006718701.4:c.1730C>A | XP_006718764.1:p.Pro577Gln | |
| XM_011545293.2:c.1493C>A | XP_011543595.1:p.Pro498Gln | |
| XM_017018381.2:c.1715C>A | XP_016873870.1:p.Pro572Gln | |
| XM_017018382.2:c.1601C>A | XP_016873871.1:p.Pro534Gln | |
| XM_017018383.2:c.1601C>A | XP_016873872.1:p.Pro534Gln | |
| XM_017018384.2:c.1586C>A | XP_016873873.1:p.Pro529Gln | |
| XM_017018385.2:c.1736C>A | XP_016873874.1:p.Pro579Gln | |
| XM_017018386.2:c.1601C>A | XP_016873875.1:p.Pro534Gln | |
| XM_017018387.2:c.1586C>A | XP_016873876.1:p.Pro529Gln | |
| XM_017018388.2:c.1493C>A | XP_016873877.1:p.Pro498Gln | |
| XM_024448700.1:c.1730C>A | XP_024304468.1:p.Pro577Gln | |
| NM_007166.4:c.1751C>A MANE Select | NP_009097.2:p.Pro584Gln | |
| NM_001008660.3:c.1601C>A | NP_001008660.1:p.Pro534Gln | |
| NM_001206946.2:c.1730C>A | NP_001193875.1:p.Pro577Gln | |
| NM_001206947.2:c.1448C>A | NP_001193876.1:p.Pro483Gln |