Revel Score:
ENST00000340941 (MANE Select)
0.912
ENST00000323375
0.912
ENST00000509539
0.912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646218A>G , CM000667.2:g.71646218A>G | GRCh38 |
| NC_000005.9:g.70942045A>G , CM000667.1:g.70942045A>G | GRCh37 |
| NC_000005.8:g.70977801A>G | NCBI36 |
| NG_008882.1:g.63931A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2765A>G | ||
| ENST00000505787.8:n.2988A>G | ||
| ENST00000509539.3:c.483A>G | ENSP00000425474.3:n.483A>G | |
| ENST00000681968.1:c.650A>G | ENSP00000508143.1:p.His217Arg | |
| ENST00000681991.1:n.1241A>G | ||
| ENST00000682045.1:c.1013A>G | ENSP00000507329.1:p.His338Arg | |
| ENST00000682214.1:c.764A>G | ENSP00000507336.1:p.His255Arg | |
| ENST00000682231.1:n.175A>G | ||
| ENST00000682438.1:n.3156A>G | ||
| ENST00000682499.1:n.1978A>G | ||
| ENST00000682541.1:c.*55A>G | ENSP00000507673.1:n.*55A>G | |
| ENST00000682640.1:n.861A>G | ||
| ENST00000682667.1:n.1322A>G | ||
| ENST00000682687.1:c.*109A>G | ENSP00000507945.1:n.*109A>G | |
| ENST00000682727.1:c.1148A>G | ENSP00000507393.1:p.His383Arg | |
| ENST00000682876.1:c.1286A>G | ENSP00000508389.1:p.His429Arg | |
| ENST00000683098.1:c.811A>G | ENSP00000507670.1:p.Thr271Ala | |
| ENST00000683258.1:c.*878A>G | ENSP00000507448.1:n.*878A>G | |
| ENST00000683339.1:c.941A>G | ENSP00000507758.1:p.His314Arg | |
| ENST00000683403.1:c.1067A>G | ENSP00000507896.1:p.His356Arg | |
| ENST00000683429.1:c.764A>G | ENSP00000507697.1:p.His255Arg | |
| ENST00000683789.1:c.1043A>G | ENSP00000507012.1:p.His348Arg | |
| ENST00000683847.1:n.1327A>G | ||
| ENST00000683882.1:c.*98A>G | ENSP00000506735.1:n.*98A>G | |
| ENST00000684024.1:c.*828A>G | ENSP00000507175.1:n.*828A>G | |
| ENST00000684132.1:c.85A>G | ||
| ENST00000684254.1:c.*883A>G | ENSP00000508001.1:n.*883A>G | |
| ENST00000684310.1:c.323A>G | ENSP00000507550.1:p.His108Arg | |
| ENST00000684474.1:n.793A>G | ||
| ENST00000684530.1:c.335-2879A>G | ENSP00000507439.1:n.335-2879A>G | |
| ENST00000684686.1:n.776A>G | ||
| ENST00000340941.11:c.1157A>G MANE Select | ENSP00000343657.6:p.His386Arg | |
| ENST00000340941.10:c.1157A>G | ENSP00000343657.6:p.His386Arg | |
| ENST00000509539.2:c.473A>G | ENSP00000425474.2:p.His158Arg | |
| ENST00000512218.6:c.*109A>G | ENSP00000423202.2:n.*109A>G | |
| NM_022132.4:c.1157A>G | NP_071415.1:p.His386Arg | |
| XM_005248567.1:c.1043A>G | XP_005248624.1:p.His348Arg | |
| NM_001363147.1:c.1043A>G | NP_001350076.1:p.His348Arg | |
| XR_001742172.1:n.1245A>G | ||
| NM_022132.5:c.1157A>G MANE Select | NP_071415.1:p.His386Arg |