Revel Score:
ENST00000504568
0.360
ENST00000247933
0.959
ENST00000453894
0.959
ENST00000502910
0.959
ENST00000514192
0.959
ENST00000509948
0.959
ENST00000514224 (MANE Select)
0.959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001513G>C , CM000666.2:g.1001513G>C | GRCh38 |
| NC_000004.11:g.995301G>C , CM000666.1:g.995301G>C | GRCh37 |
| NC_000004.10:g.985301G>C | NCBI36 |
| NG_008103.1:g.19517G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.539G>C | ENSP00000247933.4:p.Trp180Ser | |
| ENST00000514224.2:c.539G>C MANE Select | ENSP00000425081.2:p.Trp180Ser | |
| ENST00000652070.1:n.595G>C | ||
| ENST00000247933.8:c.539G>C | ENSP00000247933.4:p.Trp180Ser | |
| ENST00000502910.5:c.398G>C | ENSP00000422952.1:p.Trp133Ser | |
| ENST00000504568.5:c.499G>C | ||
| ENST00000509948.5:c.332G>C | ENSP00000424227.1:p.Trp111Ser | |
| ENST00000514192.5:c.356G>C | ENSP00000423685.1:p.Trp119Ser | |
| ENST00000514224.1:c.143G>C | ENSP00000425081.1:p.Trp48Ser | |
| ENST00000514698.5:n.439G>C | ||
| NM_000203.4:c.539G>C | NP_000194.2:p.Trp180Ser | |
| NR_110313.1:n.627G>C | ||
| XM_006713882.2:c.143G>C | XP_006713945.1:p.Trp48Ser | |
| XM_011513459.1:c.398G>C | XP_011511761.1:p.Trp133Ser | |
| XM_011513460.1:c.398G>C | XP_011511762.1:p.Trp133Ser | |
| XM_011513461.1:c.332G>C | XP_011511763.1:p.Trp111Ser | |
| XM_011513462.1:c.251G>C | XP_011511764.1:p.Trp84Ser | |
| XM_011513463.1:c.251G>C | XP_011511765.1:p.Trp84Ser | |
| XR_924947.1:n.608G>C | ||
| NM_000203.5:c.539G>C MANE Select | NP_000194.2:p.Trp180Ser | |
| NM_001363576.1:c.143G>C | NP_001350505.1:p.Trp48Ser | |
| XM_011513461.2:c.332G>C | XP_011511763.1:p.Trp111Ser | |
| XM_017008163.1:c.-450G>C | XP_016863652.1:n.-450G>C |