Revel Score:
ENST00000247933
0.713
ENST00000453894
0.713
ENST00000502910
0.713
ENST00000514192
0.713
ENST00000509948
0.713
ENST00000514224 (MANE Select)
0.713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1001775C>G , CM000666.2:g.1001775C>G | GRCh38 |
| NC_000004.11:g.995563C>G , CM000666.1:g.995563C>G | GRCh37 |
| NC_000004.10:g.985563C>G | NCBI36 |
| NG_008103.1:g.19779C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.686C>G | ENSP00000247933.4:p.Pro229Arg | |
| ENST00000514224.2:c.686C>G MANE Select | ENSP00000425081.2:p.Pro229Arg | |
| ENST00000652070.1:n.742C>G | ||
| ENST00000247933.8:c.686C>G | ENSP00000247933.4:p.Pro229Arg | |
| ENST00000502910.5:c.545C>G | ENSP00000422952.1:p.Pro182Arg | |
| ENST00000509948.5:c.479C>G | ENSP00000424227.1:p.Pro160Arg | |
| ENST00000514192.5:c.503C>G | ENSP00000423685.1:p.Pro168Arg | |
| ENST00000514224.1:c.290C>G | ENSP00000425081.1:p.Pro97Arg | |
| ENST00000514698.5:n.586C>G | ||
| NM_000203.4:c.686C>G | NP_000194.2:p.Pro229Arg | |
| NR_110313.1:n.774C>G | ||
| XM_006713882.2:c.290C>G | XP_006713945.1:p.Pro97Arg | |
| XM_011513459.1:c.545C>G | XP_011511761.1:p.Pro182Arg | |
| XM_011513460.1:c.545C>G | XP_011511762.1:p.Pro182Arg | |
| XM_011513461.1:c.479C>G | XP_011511763.1:p.Pro160Arg | |
| XM_011513462.1:c.398C>G | XP_011511764.1:p.Pro133Arg | |
| XM_011513463.1:c.398C>G | XP_011511765.1:p.Pro133Arg | |
| XR_924947.1:n.755C>G | ||
| NM_000203.5:c.686C>G MANE Select | NP_000194.2:p.Pro229Arg | |
| NM_001363576.1:c.290C>G | NP_001350505.1:p.Pro97Arg | |
| XM_011513461.2:c.479C>G | XP_011511763.1:p.Pro160Arg | |
| XM_017008163.1:c.-275C>G | XP_016863652.1:n.-275C>G |