Revel Score:
ENST00000419755
0.239
ENST00000318312 (MANE Select)
0.239
ENST00000526815
0.239
ENST00000455748
0.239
ENST00000393994
0.239
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514428C>G , CM000673.2:g.66514428C>G | GRCh38 |
| NC_000011.9:g.66281899C>G , CM000673.1:g.66281899C>G | GRCh37 |
| NC_000011.8:g.66038475C>G | NCBI36 |
| NG_009093.1:g.8781C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318312.12:c.182C>G MANE Select | ENSP00000317469.7:p.Pro61Arg | |
| ENST00000318312.11:c.182C>G | ENSP00000317469.7:p.Pro61Arg | |
| ENST00000393994.4:c.182C>G | ENSP00000377563.2:p.Pro61Arg | |
| ENST00000419755.3:c.293C>G | ENSP00000398526.3:p.Pro98Arg | |
| ENST00000455748.6:c.182C>G | ENSP00000405764.2:p.Pro61Arg | |
| ENST00000524458.5:c.57C>G | ENSP00000436195.1:p.Pro19= | |
| ENST00000524705.2:c.-20-78C>G | ENSP00000436927.1:n.-20-78C>G | |
| ENST00000524907.5:n.172C>G | ||
| ENST00000525809.5:c.160-1112C>G | ENSP00000431187.1:n.160-1112C>G | |
| ENST00000526035.5:c.147C>G | ENSP00000434197.1:p.Pro49= | |
| ENST00000526760.5:c.147C>G | ENSP00000432140.1:p.Pro49= | |
| ENST00000526815.5:c.92C>G | ENSP00000436860.1:p.Pro31Arg | |
| ENST00000527251.5:c.57C>G | ENSP00000434360.1:p.Pro19= | |
| ENST00000529766.5:n.189C>G | ||
| ENST00000529955.5:n.200C>G | ||
| ENST00000532908.5:c.147C>G | ENSP00000431866.1:p.Pro49= | |
| ENST00000533557.5:c.147C>G | ENSP00000434619.1:p.Pro49= | |
| ENST00000533644.5:c.182C>G | ENSP00000436073.1:p.Pro61Arg | |
| ENST00000534730.5:n.194C>G | ||
| ENST00000630659.2:c.147C>G | ENSP00000486455.1:p.Pro49= | |
| NM_024649.4:c.182C>G | NP_078925.3:p.Pro61Arg | |
| NM_024649.5:c.182C>G MANE Select | NP_078925.3:p.Pro61Arg |