Revel Score:
ENST00000366641 (MANE Select)
0.563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231374041G>C , CM000663.2:g.231374041G>C | GRCh38 |
| NC_000001.10:g.231509787G>C , CM000663.1:g.231509787G>C | GRCh37 |
| NC_000001.9:g.229576410G>C | NCBI36 |
| NG_015865.1:g.56004C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366641.4:c.950C>G MANE Select | ENSP00000355601.3:p.Pro317Arg | |
| ENST00000476717.2:n.227C>G | ||
| ENST00000653198.1:n.492C>G | ||
| ENST00000653908.1:c.89C>G | ENSP00000499669.1:p.Pro30Arg | |
| ENST00000654803.1:c.172C>G | ||
| ENST00000658954.1:c.324C>G | ||
| ENST00000662216.1:c.89C>G | ENSP00000499467.1:p.Pro30Arg | |
| ENST00000663780.1:n.50C>G | ||
| ENST00000667629.1:c.254C>G | ENSP00000499629.1:p.Pro85Arg | |
| ENST00000670301.1:c.230-7566C>G | ||
| ENST00000366641.3:c.950C>G | ENSP00000355601.3:p.Pro317Arg | |
| ENST00000476717.1:n.227C>G | ||
| NM_022051.2:c.950C>G | NP_071334.1:p.Pro317Arg | |
| XM_005273166.3:c.950C>G | XP_005273223.1:p.Pro317Arg | |
| XM_005273167.3:c.950C>G | XP_005273224.1:p.Pro317Arg | |
| XM_005273166.5:c.950C>G | XP_005273223.1:p.Pro317Arg | |
| XM_005273167.5:c.950C>G | XP_005273224.1:p.Pro317Arg | |
| XM_024447734.1:c.950C>G | XP_024303502.1:p.Pro317Arg | |
| NM_001377260.1:c.950C>G | NP_001364189.1:p.Pro317Arg | |
| NM_001377261.1:c.950C>G | NP_001364190.1:p.Pro317Arg | |
| NM_022051.3:c.950C>G MANE Select | NP_071334.1:p.Pro317Arg |