Revel Score:
ENST00000372755
0.405
ENST00000211998 (MANE Select)
0.405
ENST00000415462
0.405
ENST00000537043
0.405
ENST00000436396
0.405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74095725G>A , CM000672.2:g.74095725G>A | GRCh38 |
| NC_000010.10:g.75855483G>A , CM000672.1:g.75855483G>A | GRCh37 |
| NC_000010.9:g.75525489G>A | NCBI36 |
| NG_008868.1:g.102612G>A , LRG_383:g.102612G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.1613G>A MANE Select | ENSP00000211998.5:p.Arg538Gln | |
| ENST00000211998.8:c.1613G>A | ENSP00000211998.4:p.Arg538Gln | |
| ENST00000372755.7:c.1613G>A | ENSP00000361841.3:p.Arg538Gln | |
| ENST00000436396.1:c.629G>A | ENSP00000415489.1:p.Arg210Gln | |
| ENST00000478896.2:n.332-5329G>A | ||
| ENST00000623461.3:n.4416G>A | ||
| ENST00000624354.3:c.*1368G>A | ENSP00000485551.1:n.*1368G>A | |
| NM_003373.3:c.1613G>A | NP_003364.1:p.Arg538Gln | |
| NM_014000.2:c.1613G>A , LRG_383t1:c.1613G>A | NP_054706.1:p.Arg538Gln | |
| XM_005270142.1:c.1616G>A | XP_005270199.1:p.Arg539Gln | |
| XM_005270143.1:c.1616G>A | XP_005270200.1:p.Arg539Gln | |
| NM_003373.4:c.1613G>A | NP_003364.1:p.Arg538Gln | |
| NM_014000.3:c.1613G>A MANE Select | NP_054706.1:p.Arg538Gln |