Revel Score:
ENST00000310325 (MANE Select)
0.846
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66564095C>G , CM000673.2:g.66564095C>G | GRCh38 |
| NC_000011.9:g.66331566C>G , CM000673.1:g.66331566C>G | GRCh37 |
| NC_000011.8:g.66088142C>G | NCBI36 |
| NG_013304.2:g.22176C>G | |
| NG_032973.1:g.9482G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310325.10:c.1373G>C MANE Select | ENSP00000310832.5:p.Gly458Ala | |
| ENST00000524994.6:c.1370G>C | ENSP00000433082.2:p.Gly457Ala | |
| ENST00000526010.2:c.1097G>C | ENSP00000435822.2:p.Gly366Ala | |
| ENST00000527141.6:n.1683G>C | ||
| ENST00000530565.6:n.2323G>C | ||
| ENST00000676860.1:n.1735G>C | ||
| ENST00000676924.1:c.*804G>C | ENSP00000503579.1:n.*804G>C | |
| ENST00000677005.1:c.1465G>C | ENSP00000503238.1:p.Val489Leu | |
| ENST00000677020.1:n.1417G>C | ||
| ENST00000677298.1:n.2190G>C | ||
| ENST00000677365.1:n.1922G>C | ||
| ENST00000677526.1:c.*748G>C | ENSP00000504693.1:n.*748G>C | |
| ENST00000677587.1:c.1415G>C | ENSP00000503791.1:p.Gly472Ala | |
| ENST00000677678.1:n.1193G>C | ||
| ENST00000677779.1:n.1218G>C | ||
| ENST00000677896.1:c.1364G>C | ENSP00000504605.1:p.Gly455Ala | |
| ENST00000677920.1:c.*1036G>C | ENSP00000503614.1:n.*1036G>C | |
| ENST00000678154.1:c.*1035G>C | ENSP00000502935.1:n.*1035G>C | |
| ENST00000678294.1:n.1900G>C | ||
| ENST00000678305.1:c.1301G>C | ENSP00000504383.1:p.Gly434Ala | |
| ENST00000678383.1:n.2536G>C | ||
| ENST00000678413.1:c.*978G>C | ENSP00000503232.1:n.*978G>C | |
| ENST00000678471.1:c.1370G>C | ENSP00000502949.1:p.Gly457Ala | |
| ENST00000678614.1:n.1880G>C | ||
| ENST00000678710.1:c.*495G>C | ENSP00000504254.1:n.*495G>C | |
| ENST00000678872.1:c.1372+1G>C | ENSP00000503425.1:n.1372+1G>C | |
| ENST00000678946.1:n.1809G>C | ||
| ENST00000679011.1:c.*337G>C | ENSP00000503980.1:n.*337G>C | |
| ENST00000679024.1:c.1373G>C | ENSP00000503506.1:p.Gly458Ala | |
| ENST00000679160.1:c.1298G>C | ENSP00000503972.1:p.Gly433Ala | |
| ENST00000679225.1:n.1724G>C | ||
| ENST00000679314.1:c.*878G>C | ENSP00000503465.1:n.*878G>C | |
| ENST00000679347.1:c.1468G>C | ENSP00000503676.1:p.Val490Leu | |
| ENST00000310325.9:c.1373G>C | ENSP00000310832.5:p.Gly458Ala | |
| ENST00000527141.5:n.1305G>C | ||
| NM_003793.3:c.1373G>C | NP_003784.2:p.Gly458Ala | |
| XM_011545328.1:c.1193G>C | XP_011543630.1:p.Gly398Ala | |
| XM_011545328.2:c.1193G>C | XP_011543630.1:p.Gly398Ala | |
| NM_003793.4:c.1373G>C MANE Select | NP_003784.2:p.Gly458Ala |