Revel Score:
ENST00000340941 (MANE Select)
0.842
ENST00000323375
0.842
ENST00000509539
0.842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646219C>G , CM000667.2:g.71646219C>G | GRCh38 |
| NC_000005.9:g.70942046C>G , CM000667.1:g.70942046C>G | GRCh37 |
| NC_000005.8:g.70977802C>G | NCBI36 |
| NG_008882.1:g.63932C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2766C>G | ||
| ENST00000505787.8:n.2989C>G | ||
| ENST00000509539.3:c.484C>G | ENSP00000425474.3:n.484C>G | |
| ENST00000681968.1:c.651C>G | ENSP00000508143.1:p.His217Gln | |
| ENST00000681991.1:n.1242C>G | ||
| ENST00000682045.1:c.1014C>G | ENSP00000507329.1:p.His338Gln | |
| ENST00000682214.1:c.765C>G | ENSP00000507336.1:p.His255Gln | |
| ENST00000682231.1:n.176C>G | ||
| ENST00000682438.1:n.3157C>G | ||
| ENST00000682499.1:n.1979C>G | ||
| ENST00000682541.1:c.*56C>G | ENSP00000507673.1:n.*56C>G | |
| ENST00000682640.1:n.862C>G | ||
| ENST00000682667.1:n.1323C>G | ||
| ENST00000682687.1:c.*110C>G | ENSP00000507945.1:n.*110C>G | |
| ENST00000682727.1:c.1149C>G | ENSP00000507393.1:p.His383Gln | |
| ENST00000682876.1:c.1287C>G | ENSP00000508389.1:p.His429Gln | |
| ENST00000683098.1:c.812C>G | ENSP00000507670.1:p.Thr271Ser | |
| ENST00000683258.1:c.*879C>G | ENSP00000507448.1:n.*879C>G | |
| ENST00000683339.1:c.942C>G | ENSP00000507758.1:p.His314Gln | |
| ENST00000683403.1:c.1068C>G | ENSP00000507896.1:p.His356Gln | |
| ENST00000683429.1:c.765C>G | ENSP00000507697.1:p.His255Gln | |
| ENST00000683789.1:c.1044C>G | ENSP00000507012.1:p.His348Gln | |
| ENST00000683847.1:n.1328C>G | ||
| ENST00000683882.1:c.*99C>G | ENSP00000506735.1:n.*99C>G | |
| ENST00000684024.1:c.*829C>G | ENSP00000507175.1:n.*829C>G | |
| ENST00000684132.1:c.86C>G | ||
| ENST00000684254.1:c.*884C>G | ENSP00000508001.1:n.*884C>G | |
| ENST00000684310.1:c.324C>G | ENSP00000507550.1:p.His108Gln | |
| ENST00000684474.1:n.794C>G | ||
| ENST00000684530.1:c.335-2878C>G | ENSP00000507439.1:n.335-2878C>G | |
| ENST00000684686.1:n.777C>G | ||
| ENST00000340941.11:c.1158C>G MANE Select | ENSP00000343657.6:p.His386Gln | |
| ENST00000340941.10:c.1158C>G | ENSP00000343657.6:p.His386Gln | |
| ENST00000509539.2:c.474C>G | ENSP00000425474.2:p.His158Gln | |
| ENST00000512218.6:c.*110C>G | ENSP00000423202.2:n.*110C>G | |
| NM_022132.4:c.1158C>G | NP_071415.1:p.His386Gln | |
| XM_005248567.1:c.1044C>G | XP_005248624.1:p.His348Gln | |
| NM_001363147.1:c.1044C>G | NP_001350076.1:p.His348Gln | |
| XR_001742172.1:n.1246C>G | ||
| NM_022132.5:c.1158C>G MANE Select | NP_071415.1:p.His386Gln |