ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Revel Score:
ENST00000299427 (MANE Select)
0.852
ENST00000453338
0.852
ENST00000436873
0.852
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6618823A>C , CM000673.2:g.6618823A>C | GRCh38 |
| NC_000011.9:g.6640054A>C , CM000673.1:g.6640054A>C | GRCh37 |
| NC_000011.8:g.6596630A>C | NCBI36 |
| NG_008653.1:g.5639T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.68T>G | ENSP00000507321.1:p.Leu23Arg | |
| ENST00000299427.12:c.182T>G MANE Select | ENSP00000299427.6:p.Leu61Arg | |
| ENST00000428886.7:n.270T>G | ||
| ENST00000524788.2:n.195T>G | ||
| ENST00000524903.2:n.311T>G | ||
| ENST00000528571.6:c.89+373T>G | ENSP00000434647.1:n.89+373T>G | |
| ENST00000528657.2:c.*369T>G | ENSP00000435001.1:n.*369T>G | |
| ENST00000530040.2:n.211T>G | ||
| ENST00000531754.2:c.182T>G | ENSP00000493706.1:p.Leu61Arg | |
| ENST00000533371.6:c.-548T>G | ENSP00000437066.1:n.-548T>G | |
| ENST00000534644.6:n.183T>G | ||
| ENST00000642892.1:c.-495T>G | ENSP00000494165.1:n.-495T>G | |
| ENST00000643439.1:c.89+373T>G | ENSP00000495849.1:n.89+373T>G | |
| ENST00000643479.1:n.211T>G | ||
| ENST00000643516.1:c.69T>G | ||
| ENST00000644151.1:n.475T>G | ||
| ENST00000644218.1:c.182T>G | ENSP00000493574.1:p.Leu61Arg | |
| ENST00000644683.1:c.182T>G | ENSP00000494085.1:p.Leu61Arg | |
| ENST00000644810.1:c.182T>G | ENSP00000495895.1:p.Leu61Arg | |
| ENST00000644831.1:n.211T>G | ||
| ENST00000644933.1:c.-548T>G | ENSP00000496133.1:n.-548T>G | |
| ENST00000645020.1:n.211T>G | ||
| ENST00000645285.1:c.-501+373T>G | ENSP00000495058.1:n.-501+373T>G | |
| ENST00000645331.1:n.204T>G | ||
| ENST00000645620.1:c.-490T>G | ENSP00000493657.1:n.-490T>G | |
| ENST00000646777.1:n.211T>G | ||
| ENST00000647152.1:c.-501+373T>G | ENSP00000495893.1:n.-501+373T>G | |
| ENST00000647209.1:c.*51T>G | ENSP00000495558.1:n.*51T>G | |
| ENST00000647346.1:n.203T>G | ||
| ENST00000299427.10:c.182T>G | ENSP00000299427.6:p.Leu61Arg | |
| ENST00000428886.6:n.204T>G | ||
| ENST00000436873.6:c.182T>G | ENSP00000398136.2:p.Leu61Arg | |
| ENST00000524903.1:n.279T>G | ||
| ENST00000528571.5:c.89+373T>G | ENSP00000434647.1:n.89+373T>G | |
| ENST00000528657.1:c.*369T>G | ENSP00000435001.1:n.*369T>G | |
| ENST00000528917.1:n.483T>G | ||
| ENST00000530040.1:n.294T>G | ||
| ENST00000531754.1:n.230T>G | ||
| ENST00000533371.5:c.-548T>G | ENSP00000437066.1:n.-548T>G | |
| ENST00000534644.5:n.214+373T>G | ||
| ENST00000611494.4:c.182T>G | ENSP00000484546.1:p.Leu61Arg | |
| NM_000391.3:c.182T>G | NP_000382.3:p.Leu61Arg | |
| NM_000391.4:c.182T>G MANE Select | NP_000382.3:p.Leu61Arg |