Revel Score:
ENST00000340941 (MANE Select)
0.959
ENST00000323375
0.959
ENST00000509539
0.959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71646218A>C , CM000667.2:g.71646218A>C | GRCh38 |
| NC_000005.9:g.70942045A>C , CM000667.1:g.70942045A>C | GRCh37 |
| NC_000005.8:g.70977801A>C | NCBI36 |
| NG_008882.1:g.63931A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.2765A>C | ||
| ENST00000505787.8:n.2988A>C | ||
| ENST00000509539.3:c.483A>C | ENSP00000425474.3:n.483A>C | |
| ENST00000681968.1:c.650A>C | ENSP00000508143.1:p.His217Pro | |
| ENST00000681991.1:n.1241A>C | ||
| ENST00000682045.1:c.1013A>C | ENSP00000507329.1:p.His338Pro | |
| ENST00000682214.1:c.764A>C | ENSP00000507336.1:p.His255Pro | |
| ENST00000682231.1:n.175A>C | ||
| ENST00000682438.1:n.3156A>C | ||
| ENST00000682499.1:n.1978A>C | ||
| ENST00000682541.1:c.*55A>C | ENSP00000507673.1:n.*55A>C | |
| ENST00000682640.1:n.861A>C | ||
| ENST00000682667.1:n.1322A>C | ||
| ENST00000682687.1:c.*109A>C | ENSP00000507945.1:n.*109A>C | |
| ENST00000682727.1:c.1148A>C | ENSP00000507393.1:p.His383Pro | |
| ENST00000682876.1:c.1286A>C | ENSP00000508389.1:p.His429Pro | |
| ENST00000683098.1:c.811A>C | ENSP00000507670.1:p.Thr271Pro | |
| ENST00000683258.1:c.*878A>C | ENSP00000507448.1:n.*878A>C | |
| ENST00000683339.1:c.941A>C | ENSP00000507758.1:p.His314Pro | |
| ENST00000683403.1:c.1067A>C | ENSP00000507896.1:p.His356Pro | |
| ENST00000683429.1:c.764A>C | ENSP00000507697.1:p.His255Pro | |
| ENST00000683789.1:c.1043A>C | ENSP00000507012.1:p.His348Pro | |
| ENST00000683847.1:n.1327A>C | ||
| ENST00000683882.1:c.*98A>C | ENSP00000506735.1:n.*98A>C | |
| ENST00000684024.1:c.*828A>C | ENSP00000507175.1:n.*828A>C | |
| ENST00000684132.1:c.85A>C | ||
| ENST00000684254.1:c.*883A>C | ENSP00000508001.1:n.*883A>C | |
| ENST00000684310.1:c.323A>C | ENSP00000507550.1:p.His108Pro | |
| ENST00000684474.1:n.793A>C | ||
| ENST00000684530.1:c.335-2879A>C | ENSP00000507439.1:n.335-2879A>C | |
| ENST00000684686.1:n.776A>C | ||
| ENST00000340941.11:c.1157A>C MANE Select | ENSP00000343657.6:p.His386Pro | |
| ENST00000340941.10:c.1157A>C | ENSP00000343657.6:p.His386Pro | |
| ENST00000509539.2:c.473A>C | ENSP00000425474.2:p.His158Pro | |
| ENST00000512218.6:c.*109A>C | ENSP00000423202.2:n.*109A>C | |
| NM_022132.4:c.1157A>C | NP_071415.1:p.His386Pro | |
| XM_005248567.1:c.1043A>C | XP_005248624.1:p.His348Pro | |
| NM_001363147.1:c.1043A>C | NP_001350076.1:p.His348Pro | |
| XR_001742172.1:n.1245A>C | ||
| NM_022132.5:c.1157A>C MANE Select | NP_071415.1:p.His386Pro |