Revel Score:
ENST00000262210
0.160
ENST00000389042
0.160
ENST00000412460
0.160
ENST00000519668
0.160
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67161823C>A , CM000670.2:g.67161823C>A | GRCh38 |
| NC_000008.10:g.68074058C>A , CM000670.1:g.68074058C>A | GRCh37 |
| NC_000008.9:g.68236612C>A | NCBI36 |
| NG_034100.1:g.102456C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2617C>A | ENSP00000262210.6:p.Pro873Thr | |
| ENST00000521324.3:c.423C>A | ||
| ENST00000674993.1:c.2641C>A | ENSP00000502454.1:p.Pro881Thr | |
| ENST00000675306.2:c.2275C>A | ENSP00000502421.1:p.Pro759Thr | |
| ENST00000675869.1:c.2356C>A | ENSP00000502747.1:p.Pro786Thr | |
| ENST00000675955.1:c.2470C>A | ENSP00000501676.1:p.Pro824Thr | |
| ENST00000675990.1:n.3880C>A | ||
| ENST00000676113.1:c.2509C>A | ENSP00000501645.1:p.Pro837Thr | |
| ENST00000676317.1:c.2536C>A | ENSP00000502047.1:p.Pro846Thr | |
| ENST00000676471.1:c.2284C>A | ENSP00000503711.1:p.Pro762Thr | |
| ENST00000676573.1:c.1852C>A | ENSP00000504532.1:p.Pro618Thr | |
| ENST00000676605.1:c.2659C>A | ENSP00000503605.1:p.Pro887Thr | |
| ENST00000676804.1:c.854C>A | ||
| ENST00000676847.1:c.2530C>A | ENSP00000503336.1:p.Pro844Thr | |
| ENST00000676858.1:c.*512C>A | ENSP00000502925.1:n.*512C>A | |
| ENST00000676882.1:c.2437C>A | ENSP00000504342.1:p.Pro813Thr | |
| ENST00000676968.1:c.423C>A | ||
| ENST00000677009.1:c.2536C>A | ENSP00000503297.1:p.Pro846Thr | |
| ENST00000677052.1:n.2049C>A | ||
| ENST00000677131.1:c.423C>A | ||
| ENST00000677256.1:c.*2270C>A | ENSP00000504102.1:n.*2270C>A | |
| ENST00000677430.1:c.*143C>A | ENSP00000504177.1:n.*143C>A | |
| ENST00000677455.1:n.2424C>A | ||
| ENST00000677473.1:c.*567C>A | ENSP00000503534.1:n.*567C>A | |
| ENST00000677592.1:c.2518C>A | ENSP00000504516.1:p.Pro840Thr | |
| ENST00000677619.1:c.1897C>A | ENSP00000504522.1:p.Pro633Thr | |
| ENST00000677697.1:n.514C>A | ||
| ENST00000677845.1:c.*922C>A | ENSP00000503524.1:n.*922C>A | |
| ENST00000677855.1:c.1859C>A | ENSP00000504757.1:n.1859C>A | |
| ENST00000677964.1:c.423C>A | ||
| ENST00000678017.1:c.1402C>A | ENSP00000504394.1:p.Pro468Thr | |
| ENST00000678156.1:n.2191C>A | ||
| ENST00000678318.1:c.2086C>A | ENSP00000503690.1:p.Pro696Thr | |
| ENST00000678542.1:c.2659C>A | ENSP00000503878.1:p.Pro887Thr | |
| ENST00000678616.1:c.2551C>A MANE Select | ENSP00000504733.1:p.Pro851Thr | |
| ENST00000678635.1:n.1046C>A | ||
| ENST00000678645.1:c.2428C>A | ENSP00000504031.1:p.Pro810Thr | |
| ENST00000678723.1:c.423C>A | ||
| ENST00000678747.1:c.1978C>A | ENSP00000503390.1:p.Pro660Thr | |
| ENST00000678895.1:c.423C>A | ||
| ENST00000679112.1:c.*2450C>A | ENSP00000503739.1:n.*2450C>A | |
| ENST00000679226.1:c.2275C>A | ENSP00000503601.1:p.Pro759Thr | |
| ENST00000679274.1:n.1475C>A | ||
| ENST00000679295.1:n.1522C>A | ||
| ENST00000262210.9:c.2536C>A | ENSP00000262210.5:p.Pro846Thr | |
| ENST00000519668.1:c.1501C>A | ENSP00000430092.1:p.Pro501Thr | |
| ENST00000521168.5:n.541C>A | ||
| NM_001291339.1:c.1501C>A | NP_001278268.1:p.Pro501Thr | |
| NM_024790.6:c.2536C>A | NP_079066.5:p.Pro846Thr | |
| XM_005251305.3:c.2779C>A | XP_005251362.2:p.Pro927Thr | |
| XM_006716474.2:c.2626C>A | XP_006716537.2:p.Pro876Thr | |
| XM_006716477.2:c.2248C>A | XP_006716540.2:p.Pro750Thr | |
| XM_011517598.1:c.2821C>A | XP_011515900.1:p.Pro941Thr | |
| XM_011517599.1:c.2797C>A | XP_011515901.1:p.Pro933Thr | |
| XM_011517600.1:c.2755C>A | XP_011515902.1:p.Pro919Thr | |
| XM_011517601.1:c.2716C>A | XP_011515903.1:p.Pro906Thr | |
| XM_011517602.1:c.2674C>A | XP_011515904.1:p.Pro892Thr | |
| XM_011517603.1:c.2575C>A | XP_011515905.1:p.Pro859Thr | |
| XM_011517604.1:c.2575C>A | XP_011515906.1:p.Pro859Thr | |
| XM_011517605.1:c.2575C>A | XP_011515907.1:p.Pro859Thr | |
| XM_011517606.1:c.2551C>A | XP_011515908.1:p.Pro851Thr | |
| XM_011517607.1:c.2551C>A | XP_011515909.1:p.Pro851Thr | |
| XM_011517608.1:c.2470C>A | XP_011515910.1:p.Pro824Thr | |
| XM_011517609.1:c.1696C>A | XP_011515911.1:p.Pro566Thr | |
| XM_011517610.1:c.1216C>A | XP_011515912.1:p.Pro406Thr | |
| XM_011517611.1:c.856C>A | XP_011515913.1:p.Pro286Thr | |
| NM_001363131.1:c.2470C>A | NP_001350060.1:p.Pro824Thr | |
| NM_001363132.1:c.2356C>A | NP_001350061.1:p.Pro786Thr | |
| NM_001363133.1:c.2275C>A | NP_001350062.1:p.Pro759Thr | |
| NM_001364869.1:c.2617C>A | NP_001351798.1:p.Pro873Thr | |
| NM_001364870.1:c.2437C>A | NP_001351799.1:p.Pro813Thr | |
| XM_005251305.4:c.2779C>A | XP_005251362.2:p.Pro927Thr | |
| XM_006716474.3:c.2626C>A | XP_006716537.2:p.Pro876Thr | |
| XM_006716477.3:c.2248C>A | XP_006716540.2:p.Pro750Thr | |
| XM_011517598.2:c.2821C>A | XP_011515900.1:p.Pro941Thr | |
| XM_011517599.2:c.2797C>A | XP_011515901.1:p.Pro933Thr | |
| XM_011517600.2:c.2755C>A | XP_011515902.1:p.Pro919Thr | |
| XM_011517601.2:c.2716C>A | XP_011515903.1:p.Pro906Thr | |
| XM_011517602.2:c.2674C>A | XP_011515904.1:p.Pro892Thr | |
| XM_011517603.2:c.2575C>A | XP_011515905.1:p.Pro859Thr | |
| XM_011517607.2:c.2551C>A | XP_011515909.1:p.Pro851Thr | |
| XM_011517609.2:c.1696C>A | XP_011515911.1:p.Pro566Thr | |
| XM_011517611.3:c.856C>A | XP_011515913.1:p.Pro286Thr | |
| XM_017013847.2:c.2680C>A | XP_016869336.1:p.Pro894Thr | |
| XM_017013848.2:c.2656C>A | XP_016869337.1:p.Pro886Thr | |
| XM_017013849.2:c.2617C>A | XP_016869338.1:p.Pro873Thr | |
| XM_017013850.2:c.2575C>A | XP_016869339.1:p.Pro859Thr | |
| XM_017013851.2:c.2428C>A | XP_016869340.1:p.Pro810Thr | |
| XM_017013852.2:c.2422C>A | XP_016869341.1:p.Pro808Thr | |
| XM_017013854.2:c.2224C>A | XP_016869343.1:p.Pro742Thr | |
| XM_017013855.2:c.1990C>A | XP_016869344.1:p.Pro664Thr | |
| XM_017013856.2:c.1897C>A | XP_016869345.1:p.Pro633Thr | |
| XM_017013858.2:c.1063C>A | XP_016869347.1:p.Pro355Thr | |
| XM_024447278.1:c.2551C>A | XP_024303046.1:p.Pro851Thr | |
| XM_024447279.1:c.2470C>A | XP_024303047.1:p.Pro824Thr | |
| XM_024447281.1:c.2275C>A | XP_024303049.1:p.Pro759Thr | |
| XM_024447282.1:c.1978C>A | XP_024303050.1:p.Pro660Thr | |
| XM_024447283.1:c.1654C>A | XP_024303051.1:p.Pro552Thr | |
| XM_024447284.1:c.1216C>A | XP_024303052.1:p.Pro406Thr | |
| NM_001363131.2:c.2470C>A | NP_001350060.1:p.Pro824Thr | |
| NM_001363132.2:c.2356C>A | NP_001350061.1:p.Pro786Thr | |
| NM_001363133.2:c.2275C>A | NP_001350062.1:p.Pro759Thr | |
| NM_001291339.2:c.1501C>A | NP_001278268.1:p.Pro501Thr | |
| NM_001382391.1:c.2551C>A MANE Select | NP_001369320.1:p.Pro851Thr |