Revel Score:
ENST00000225927 (MANE Select)
0.640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42537517G>C , CM000679.2:g.42537517G>C | GRCh38 |
| NC_000017.10:g.40689535G>C , CM000679.1:g.40689535G>C | GRCh37 |
| NC_000017.9:g.37943061G>C | NCBI36 |
| NG_011552.1:g.6585G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.503G>C MANE Select | ENSP00000225927.1:p.Trp168Ser | |
| ENST00000225927.6:c.503G>C | ENSP00000225927.1:p.Trp168Ser | |
| ENST00000586516.5:c.134-822G>C | ||
| ENST00000590358.1:c.191G>C | ENSP00000466892.1:p.Trp64Ser | |
| ENST00000591587.1:c.127-822G>C | ENSP00000467836.1:n.127-822G>C | |
| NM_000263.3:c.503G>C | NP_000254.2:p.Trp168Ser | |
| XM_006721920.2:c.-240G>C | XP_006721983.1:n.-240G>C | |
| XM_011524840.1:c.-240G>C | XP_011523142.1:n.-240G>C | |
| XM_017024687.1:c.-240G>C | XP_016880176.1:n.-240G>C | |
| XM_024450771.1:c.560G>C | XP_024306539.1:p.Trp187Ser | |
| XM_024450772.1:c.-240G>C | XP_024306540.1:n.-240G>C | |
| NM_000263.4:c.503G>C MANE Select | NP_000254.2:p.Trp168Ser |