Revel Score:
ENST00000380794
0.306
ENST00000405623
0.306
ENST00000264708
0.306
ENST00000395826 (MANE Select)
0.306
ENST00000449220
0.306
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007797 (EAS)
Exomes Max Group AF
0.00008863 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25161572C>G , CM000664.2:g.25161572C>G | GRCh38 |
| NC_000002.11:g.25384441C>G , CM000664.1:g.25384441C>G | GRCh37 |
| NC_000002.10:g.25237945C>G | NCBI36 |
| NG_008997.1:g.12119G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395826.7:c.313G>C MANE Select | ENSP00000379170.2:p.Glu105Gln | |
| ENST00000264708.7:c.313G>C | ENSP00000264708.3:p.Glu105Gln | |
| ENST00000380794.5:c.313G>C | ENSP00000370171.1:p.Glu105Gln | |
| ENST00000395826.6:c.313G>C | ENSP00000379170.2:p.Glu105Gln | |
| ENST00000405623.5:c.313G>C | ENSP00000384092.1:p.Glu105Gln | |
| ENST00000449220.1:c.313G>C | ENSP00000387993.1:p.Glu105Gln | |
| NM_000939.2:c.313G>C | NP_000930.1:p.Glu105Gln | |
| NM_001035256.1:c.313G>C | NP_001030333.1:p.Glu105Gln | |
| XM_011532917.1:c.313G>C | XP_011531219.1:p.Glu105Gln | |
| NM_000939.3:c.313G>C | NP_000930.1:p.Glu105Gln | |
| NM_001035256.2:c.313G>C | NP_001030333.1:p.Glu105Gln | |
| NM_001319204.1:c.313G>C | NP_001306133.1:p.Glu105Gln | |
| NM_001319205.1:c.313G>C | NP_001306134.1:p.Glu105Gln | |
| NM_000939.4:c.313G>C MANE Select | NP_000930.1:p.Glu105Gln | |
| NM_001319204.2:c.313G>C | NP_001306133.1:p.Glu105Gln | |
| NM_001319205.2:c.313G>C | NP_001306134.1:p.Glu105Gln | |
| NM_001035256.3:c.313G>C | NP_001030333.1:p.Glu105Gln |