Revel Score:
ENST00000340941 (MANE Select)
0.927
ENST00000323375
0.927
ENST00000509539
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646217C>G , CM000667.2:g.71646217C>G | GRCh38 |
| NC_000005.9:g.70942044C>G , CM000667.1:g.70942044C>G | GRCh37 |
| NC_000005.8:g.70977800C>G | NCBI36 |
| NG_008882.1:g.63930C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2764C>G | ||
| ENST00000505787.8:n.2987C>G | ||
| ENST00000509539.3:c.482C>G | ENSP00000425474.3:n.482C>G | |
| ENST00000681968.1:c.649C>G | ENSP00000508143.1:p.His217Asp | |
| ENST00000681991.1:n.1240C>G | ||
| ENST00000682045.1:c.1012C>G | ENSP00000507329.1:p.His338Asp | |
| ENST00000682214.1:c.763C>G | ENSP00000507336.1:p.His255Asp | |
| ENST00000682231.1:n.174C>G | ||
| ENST00000682438.1:n.3155C>G | ||
| ENST00000682499.1:n.1977C>G | ||
| ENST00000682541.1:c.*54C>G | ENSP00000507673.1:n.*54C>G | |
| ENST00000682640.1:n.860C>G | ||
| ENST00000682667.1:n.1321C>G | ||
| ENST00000682687.1:c.*108C>G | ENSP00000507945.1:n.*108C>G | |
| ENST00000682727.1:c.1147C>G | ENSP00000507393.1:p.His383Asp | |
| ENST00000682876.1:c.1285C>G | ENSP00000508389.1:p.His429Asp | |
| ENST00000683098.1:c.810C>G | ENSP00000507670.1:p.Leu270= | |
| ENST00000683258.1:c.*877C>G | ENSP00000507448.1:n.*877C>G | |
| ENST00000683339.1:c.940C>G | ENSP00000507758.1:p.His314Asp | |
| ENST00000683403.1:c.1066C>G | ENSP00000507896.1:p.His356Asp | |
| ENST00000683429.1:c.763C>G | ENSP00000507697.1:p.His255Asp | |
| ENST00000683789.1:c.1042C>G | ENSP00000507012.1:p.His348Asp | |
| ENST00000683847.1:n.1326C>G | ||
| ENST00000683882.1:c.*97C>G | ENSP00000506735.1:n.*97C>G | |
| ENST00000684024.1:c.*827C>G | ENSP00000507175.1:n.*827C>G | |
| ENST00000684132.1:c.84C>G | ||
| ENST00000684254.1:c.*882C>G | ENSP00000508001.1:n.*882C>G | |
| ENST00000684310.1:c.322C>G | ENSP00000507550.1:p.His108Asp | |
| ENST00000684474.1:n.792C>G | ||
| ENST00000684530.1:c.335-2880C>G | ENSP00000507439.1:n.335-2880C>G | |
| ENST00000684686.1:n.775C>G | ||
| ENST00000340941.11:c.1156C>G MANE Select | ENSP00000343657.6:p.His386Asp | |
| ENST00000340941.10:c.1156C>G | ENSP00000343657.6:p.His386Asp | |
| ENST00000509539.2:c.472C>G | ENSP00000425474.2:p.His158Asp | |
| ENST00000512218.6:c.*108C>G | ENSP00000423202.2:n.*108C>G | |
| NM_022132.4:c.1156C>G | NP_071415.1:p.His386Asp | |
| XM_005248567.1:c.1042C>G | XP_005248624.1:p.His348Asp | |
| NM_001363147.1:c.1042C>G | NP_001350076.1:p.His348Asp | |
| XR_001742172.1:n.1244C>G | ||
| NM_022132.5:c.1156C>G MANE Select | NP_071415.1:p.His386Asp |