Revel Score:
ENST00000395530
0.181
ENST00000261503
0.181
ENST00000395529
0.181
ENST00000536879
0.181
ENST00000395522
0.181
ENST00000395527 (MANE Select)
0.181
ENST00000395525
0.181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.20232378G>T , CM000679.2:g.20232378G>T | GRCh38 |
| NC_000017.10:g.20135691G>T , CM000679.1:g.20135691G>T | GRCh37 |
| NC_000017.9:g.20076283G>T | NCBI36 |
| NG_029768.1:g.228043G>T | |
| NG_029768.2:g.228043G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395527.9:c.2324G>T MANE Select | ENSP00000378898.4:p.Arg775Met | |
| ENST00000467722.3:c.*423G>T | ENSP00000463130.2:n.*423G>T | |
| ENST00000578321.2:c.2324G>T | ENSP00000462266.2:p.Arg775Met | |
| ENST00000579688.2:n.2177G>T | ||
| ENST00000580934.2:c.2324G>T | ENSP00000461944.2:p.Arg775Met | |
| ENST00000581399.6:c.344G>T | ENSP00000462471.2:p.Arg115Met | |
| ENST00000581973.7:c.2324G>T | ENSP00000464341.3:p.Arg775Met | |
| ENST00000583463.6:c.2324G>T | ENSP00000464489.2:p.Arg775Met | |
| ENST00000583482.7:c.2324G>T | ENSP00000463006.3:p.Arg775Met | |
| ENST00000583528.6:c.842G>T | ENSP00000461918.2:p.Arg281Met | |
| ENST00000676570.1:c.2324G>T | ENSP00000503507.1:p.Arg775Met | |
| ENST00000677148.1:c.2324G>T | ENSP00000503849.1:p.Arg775Met | |
| ENST00000677914.1:c.2324G>T | ENSP00000503971.1:p.Arg775Met | |
| ENST00000678019.1:c.2324G>T | ENSP00000503509.1:p.Arg775Met | |
| ENST00000678315.1:c.2324G>T | ENSP00000504304.1:p.Arg775Met | |
| ENST00000678321.1:c.2324G>T | ENSP00000503822.1:p.Arg775Met | |
| ENST00000678651.1:n.2596G>T | ||
| ENST00000679048.1:c.2324G>T | ENSP00000503774.1:p.Arg775Met | |
| ENST00000679049.1:c.2324G>T | ENSP00000503499.1:p.Arg775Met | |
| ENST00000679058.1:c.2324G>T | ENSP00000502924.1:p.Arg775Met | |
| ENST00000679255.1:c.2324G>T | ENSP00000504211.1:p.Arg775Met | |
| ENST00000679740.1:c.344G>T | ENSP00000505905.1:p.Arg115Met | |
| ENST00000679801.1:c.2081G>T | ENSP00000506625.1:p.Arg694Met | |
| ENST00000679819.1:c.344G>T | ENSP00000506551.1:p.Arg115Met | |
| ENST00000680019.1:c.2324G>T | ENSP00000506699.1:p.Arg775Met | |
| ENST00000680124.1:c.*1984G>T | ENSP00000506187.1:n.*1984G>T | |
| ENST00000680373.1:c.2081G>T | ENSP00000506254.1:p.Arg694Met | |
| ENST00000680374.1:c.2324G>T | ENSP00000505715.1:p.Arg775Met | |
| ENST00000680572.1:c.2324G>T | ENSP00000505383.1:p.Arg775Met | |
| ENST00000680604.1:c.2324G>T | ENSP00000506044.1:p.Arg775Met | |
| ENST00000680740.1:c.744G>T | ENSP00000505625.1:n.744G>T | |
| ENST00000680830.1:c.*1984G>T | ENSP00000505376.1:n.*1984G>T | |
| ENST00000681116.1:c.2324G>T | ENSP00000505864.1:p.Arg775Met | |
| ENST00000681202.1:c.2324G>T | ENSP00000506319.1:p.Arg775Met | |
| ENST00000681545.1:c.2081G>T | ENSP00000505652.1:p.Arg694Met | |
| ENST00000681564.1:c.2324G>T | ENSP00000506710.1:p.Arg775Met | |
| ENST00000681593.1:c.2324G>T | ENSP00000504996.1:p.Arg775Met | |
| ENST00000681731.1:n.640G>T | ||
| ENST00000681875.1:c.2324G>T | ENSP00000505421.1:p.Arg775Met | |
| ENST00000261503.9:c.2324G>T | ENSP00000261503.5:p.Arg775Met | |
| ENST00000395522.6:c.2081G>T | ENSP00000378893.2:p.Arg694Met | |
| ENST00000395525.7:c.2081G>T | ENSP00000378896.3:p.Arg694Met | |
| ENST00000395527.8:c.2324G>T | ENSP00000378898.4:p.Arg775Met | |
| ENST00000395529.7:c.2324G>T | ENSP00000378900.3:p.Arg775Met | |
| ENST00000395530.6:c.2081G>T | ENSP00000378901.2:p.Arg694Met | |
| ENST00000467722.2:c.*423G>T | ENSP00000463130.1:n.*423G>T | |
| ENST00000472876.5:n.542G>T | ||
| ENST00000581399.5:c.838G>T | ||
| ENST00000582226.5:c.455+547G>T | ||
| ENST00000584527.1:c.578G>T | ENSP00000463799.1:p.Arg193Met | |
| NM_001033553.2:c.2324G>T | NP_001028725.1:p.Arg775Met | |
| NM_001033554.2:c.2081G>T | NP_001028726.1:p.Arg694Met | |
| NM_001033555.2:c.2081G>T | NP_001028727.1:p.Arg694Met | |
| NM_001243438.1:c.2081G>T | NP_001230367.1:p.Arg694Met | |
| NM_001243439.1:c.2324G>T | NP_001230368.1:p.Arg775Met | |
| NM_152904.4:c.2324G>T | NP_690868.3:p.Arg775Met | |
| XM_005256860.1:c.344G>T | XP_005256917.1:p.Arg115Met | |
| XM_011524073.1:c.2324G>T | XP_011522375.1:p.Arg775Met | |
| XM_011524074.1:c.2048G>T | XP_011522376.1:p.Arg683Met | |
| XM_011524075.1:c.2324G>T | XP_011522377.1:p.Arg775Met | |
| XM_011524076.1:c.2324G>T | XP_011522378.1:p.Arg775Met | |
| XM_005256860.2:c.344G>T | XP_005256917.1:p.Arg115Met | |
| XM_011524075.2:c.2324G>T | XP_011522377.1:p.Arg775Met | |
| XM_017025317.1:c.2348G>T | XP_016880806.1:p.Arg783Met | |
| XM_017025318.1:c.2348G>T | XP_016880807.1:p.Arg783Met | |
| XM_017025319.1:c.2348G>T | XP_016880808.1:p.Arg783Met | |
| XM_017025320.1:c.2324G>T | XP_016880809.1:p.Arg775Met | |
| XM_017025321.1:c.2105G>T | XP_016880810.1:p.Arg702Met | |
| XM_017025322.1:c.2348G>T | XP_016880811.1:p.Arg783Met | |
| XM_017025323.1:c.2348G>T | XP_016880812.1:p.Arg783Met | |
| XM_017025324.1:c.2348G>T | XP_016880813.1:p.Arg783Met | |
| XM_017025325.1:c.2324G>T | XP_016880814.1:p.Arg775Met | |
| XR_001752682.1:n.2284G>T | ||
| NM_001033554.3:c.2081G>T | NP_001028726.1:p.Arg694Met | |
| NM_001033555.3:c.2081G>T | NP_001028727.1:p.Arg694Met | |
| NM_001243438.2:c.2081G>T | NP_001230367.1:p.Arg694Met | |
| NM_001243439.2:c.2324G>T MANE Select | NP_001230368.1:p.Arg775Met | |
| NM_001386077.1:c.344G>T | NP_001373006.1:p.Arg115Met | |
| NM_001386078.1:c.842G>T | NP_001373007.1:p.Arg281Met | |
| NM_001386079.1:c.2324G>T | NP_001373008.1:p.Arg775Met | |
| NM_001386080.1:c.1652G>T | NP_001373009.1:p.Arg551Met | |
| NM_001386081.1:c.2324G>T | NP_001373010.1:p.Arg775Met | |
| NM_001386082.1:c.2324G>T | NP_001373011.1:p.Arg775Met | |
| NM_001386083.1:c.2348G>T | NP_001373012.1:p.Arg783Met | |
| NM_001386084.1:c.2348G>T | NP_001373013.1:p.Arg783Met | |
| NM_001386085.1:c.2324G>T | NP_001373014.1:p.Arg775Met | |
| NM_001033553.3:c.2324G>T | NP_001028725.1:p.Arg775Met | |
| NM_001386077.2:c.344G>T | NP_001373006.1:p.Arg115Met | |
| NM_001386078.2:c.842G>T | NP_001373007.1:p.Arg281Met | |
| NM_001386083.2:c.2324G>T | NP_001373012.2:p.Arg775Met |