Revel Score:
ENST00000381911 (MANE Select)
0.868
ENST00000381906
0.868
ENST00000252898
0.868
ENST00000381905
0.868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1841523G>A , CM000673.2:g.1841523G>A | GRCh38 |
| NC_000011.9:g.1862753G>A , CM000673.1:g.1862753G>A | GRCh37 |
| NC_000011.8:g.1819329G>A | NCBI36 |
| NG_011621.1:g.7521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381911.6:c.521G>A MANE Select | ENSP00000371336.1:p.Arg174Gln | |
| ENST00000252898.11:c.521G>A | ENSP00000252898.7:p.Arg174Gln | |
| ENST00000381905.3:c.521G>A | ENSP00000371330.3:p.Arg174Gln | |
| ENST00000381906.5:c.521G>A | ENSP00000371331.1:p.Arg174Gln | |
| ENST00000381911.5:c.521G>A | ENSP00000371336.1:p.Arg174Gln | |
| ENST00000617947.4:c.521G>A | ENSP00000481242.1:p.Arg174Gln | |
| NM_001145829.1:c.521G>A | NP_001139301.1:p.Arg174Gln | |
| NM_001145841.1:c.521G>A | NP_001139313.1:p.Arg174Gln | |
| NM_003282.3:c.521G>A | NP_003273.1:p.Arg174Gln | |
| NM_003282.4:c.521G>A MANE Select | NP_003273.1:p.Arg174Gln | |
| NM_001145829.2:c.521G>A | NP_001139301.1:p.Arg174Gln | |
| NM_001145841.2:c.521G>A | NP_001139313.1:p.Arg174Gln |