Revel Score:
ENST00000336617 (MANE Select)
0.917
ENST00000539292
0.917
ENST00000422660
0.917
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50927470C>A , CM000675.2:g.50927470C>A | GRCh38 |
| NC_000013.10:g.51501606C>A , CM000675.1:g.51501606C>A | GRCh37 |
| NC_000013.9:g.50399607C>A | NCBI36 |
| NG_009055.1:g.22715C>A , LRG_279:g.22715C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.128C>A MANE Select | ENSP00000337623.2:p.Pro43His | |
| ENST00000422660.6:c.128C>A | ENSP00000389877.1:p.Pro43His | |
| ENST00000611510.5:c.38C>A | ENSP00000481236.3:p.Pro13His | |
| ENST00000616907.2:c.128C>A | ENSP00000482701.2:p.Pro43His | |
| ENST00000637648.2:c.38C>A | ENSP00000490077.2:p.Pro13His | |
| ENST00000642454.1:c.38C>A | ENSP00000494221.1:p.Pro13His | |
| ENST00000642721.1:c.128C>A | ENSP00000495650.1:p.Pro43His | |
| ENST00000642995.1:c.128C>A | ENSP00000493499.1:p.Pro43His | |
| ENST00000643159.1:c.38C>A | ENSP00000495587.1:p.Pro13His | |
| ENST00000643462.1:c.128C>A | ENSP00000496130.1:p.Pro43His | |
| ENST00000643682.1:c.128C>A | ENSP00000493655.1:p.Pro43His | |
| ENST00000643774.1:c.92C>A | ENSP00000495482.1:p.Pro31His | |
| ENST00000644034.1:c.64+17330C>A | ENSP00000495456.1:n.64+17330C>A | |
| ENST00000644183.1:c.95C>A | ENSP00000495657.1:p.Pro32His | |
| ENST00000644297.1:c.128C>A | ENSP00000495519.1:p.Pro43His | |
| ENST00000644420.1:n.154C>A | ||
| ENST00000644425.1:c.79C>A | ||
| ENST00000644518.1:c.128C>A | ENSP00000495793.1:p.Pro43His | |
| ENST00000645188.1:c.128C>A | ENSP00000496224.1:p.Pro43His | |
| ENST00000645333.1:n.60C>A | ||
| ENST00000645549.1:n.392C>A | ||
| ENST00000645618.1:c.38C>A | ENSP00000495429.1:p.Pro13His | |
| ENST00000645712.1:n.161C>A | ||
| ENST00000645955.1:c.128C>A | ENSP00000495755.1:p.Pro43His | |
| ENST00000645990.1:c.128C>A | ENSP00000496571.1:p.Pro43His | |
| ENST00000646092.1:c.92C>A | ENSP00000496293.1:p.Pro31His | |
| ENST00000646279.1:n.425C>A | ||
| ENST00000646709.1:c.38C>A | ENSP00000495278.1:p.Pro13His | |
| ENST00000646731.1:c.128C>A | ENSP00000493828.1:p.Pro43His | |
| ENST00000646960.1:c.128C>A | ENSP00000496481.1:p.Pro43His | |
| ENST00000647387.1:c.38C>A | ENSP00000495487.1:p.Pro13His | |
| ENST00000336617.7:c.128C>A | ENSP00000337623.2:p.Pro43His | |
| ENST00000422660.5:c.128C>A | ENSP00000389877.1:p.Pro43His | |
| ENST00000611510.4:c.128C>A | ENSP00000481236.2:p.Pro43His | |
| NM_001142279.2:c.128C>A , LRG_279t1:c.128C>A | NP_001135751.1:p.Pro43His | |
| NM_024570.3:c.128C>A , LRG_279t2:c.128C>A | NP_078846.2:p.Pro43His | |
| XM_005266524.2:c.128C>A | XP_005266581.1:p.Pro43His | |
| XM_005266525.2:c.128C>A | XP_005266582.1:p.Pro43His | |
| XM_006719867.2:c.110C>A | XP_006719930.1:p.Pro37His | |
| XM_011535229.1:c.128C>A | XP_011533531.1:p.Pro43His | |
| XM_011535230.1:c.128C>A | XP_011533532.1:p.Pro43His | |
| XM_011535231.1:c.128C>A | XP_011533533.1:p.Pro43His | |
| XM_011535232.1:c.-49C>A | XP_011533534.1:n.-49C>A | |
| XM_011535233.1:c.-486C>A | XP_011533535.1:n.-486C>A | |
| XM_011535234.1:c.128C>A | XP_011533536.1:p.Pro43His | |
| XM_006719867.4:c.110C>A | XP_006719930.1:p.Pro37His | |
| XM_011535230.2:c.128C>A | XP_011533532.1:p.Pro43His | |
| XM_011535231.2:c.128C>A | XP_011533533.1:p.Pro43His | |
| XM_011535233.2:c.-486C>A | XP_011533535.1:n.-486C>A | |
| XM_017020747.1:c.128C>A | XP_016876236.1:p.Pro43His | |
| NM_024570.4:c.128C>A MANE Select | NP_078846.2:p.Pro43His |