Revel Score:
ENST00000342115
0.972
ENST00000528667 (MANE Select)
0.972
ENST00000256578
0.972
ENST00000358729
0.972
ENST00000528454
0.972
ENST00000393688
0.972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109630690T>G , CM000663.2:g.109630690T>G | GRCh38 |
| NC_000001.10:g.110173312T>G , CM000663.1:g.110173312T>G | GRCh37 |
| NC_000001.9:g.109974835T>G | NCBI36 |
| NG_034075.1:g.15878T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.2165T>G | ENSP00000256578.4:p.Leu722Arg | |
| ENST00000358729.9:c.2158-253T>G | ENSP00000351573.5:n.2158-253T>G | |
| ENST00000369840.7:c.2198T>G | ENSP00000358855.3:p.Leu733Arg | |
| ENST00000474459.6:n.2784T>G | ||
| ENST00000476688.3:c.1847T>G | ENSP00000437025.2:p.Leu616Arg | |
| ENST00000486282.7:n.3419T>G | ||
| ENST00000524975.2:n.2948T>G | ||
| ENST00000525415.2:n.2677T>G | ||
| ENST00000526301.6:n.2228T>G | ||
| ENST00000527846.7:n.2020T>G | ||
| ENST00000528667.7:c.2165T>G MANE Select | ENSP00000436541.2:p.Leu722Arg | |
| ENST00000531203.6:c.1973T>G | ENSP00000431975.2:p.Leu658Arg | |
| ENST00000531734.6:c.2084T>G | ENSP00000433739.2:p.Leu695Arg | |
| ENST00000652975.2:c.*1796T>G | ENSP00000499620.2:n.*1796T>G | |
| ENST00000654851.1:n.2007T>G | ||
| ENST00000659122.2:c.2001T>G | ENSP00000499621.2:n.2001T>G | |
| ENST00000663749.1:c.*1791T>G | ENSP00000499739.1:n.*1791T>G | |
| ENST00000667949.2:c.1565T>G | ENSP00000499465.2:p.Leu522Arg | |
| ENST00000668421.1:c.*2106T>G | ENSP00000499362.1:n.*2106T>G | |
| ENST00000679379.1:c.*1917T>G | ENSP00000505528.1:n.*1917T>G | |
| ENST00000679593.1:c.*274T>G | ENSP00000505999.1:n.*274T>G | |
| ENST00000679880.1:n.2701T>G | ||
| ENST00000679892.1:c.*1933T>G | ENSP00000504882.1:n.*1933T>G | |
| ENST00000679981.1:c.*2179T>G | ENSP00000506422.1:n.*2179T>G | |
| ENST00000680132.1:c.*2115T>G | ENSP00000505950.1:n.*2115T>G | |
| ENST00000680148.1:c.*1913T>G | ENSP00000505994.1:n.*1913T>G | |
| ENST00000680170.1:n.3030T>G | ||
| ENST00000680192.1:n.3425T>G | ||
| ENST00000680519.1:n.2401T>G | ||
| ENST00000680531.1:c.*1912T>G | ENSP00000506332.1:n.*1912T>G | |
| ENST00000680820.1:c.*2219T>G | ENSP00000505735.1:n.*2219T>G | |
| ENST00000680832.1:c.*2265T>G | ENSP00000505774.1:n.*2265T>G | |
| ENST00000680929.1:c.*1854T>G | ENSP00000504916.1:n.*1854T>G | |
| ENST00000681108.1:c.*1839T>G | ENSP00000506701.1:n.*1839T>G | |
| ENST00000681121.1:c.*1275T>G | ENSP00000506466.1:n.*1275T>G | |
| ENST00000681132.1:c.*1931T>G | ENSP00000506195.1:n.*1931T>G | |
| ENST00000681181.1:c.*2452T>G | ENSP00000506038.1:n.*2452T>G | |
| ENST00000681218.1:c.*2434T>G | ENSP00000505976.1:n.*2434T>G | |
| ENST00000681246.1:c.*1821T>G | ENSP00000505534.1:n.*1821T>G | |
| ENST00000681496.1:c.*2438T>G | ENSP00000505948.1:n.*2438T>G | |
| ENST00000681834.1:n.2809T>G | ||
| ENST00000681862.1:c.*2291T>G | ENSP00000505537.1:n.*2291T>G | |
| ENST00000256578.7:c.2327T>G | ENSP00000256578.3:p.Leu776Arg | |
| ENST00000342115.8:c.2084T>G | ENSP00000345498.4:p.Leu695Arg | |
| ENST00000358729.8:c.2102T>G | ENSP00000351573.4:p.Leu701Arg | |
| ENST00000369840.6:c.2271T>G | ||
| ENST00000393688.7:c.1970T>G | ENSP00000377292.3:p.Leu657Arg | |
| ENST00000476688.2:c.486-253T>G | ||
| ENST00000479919.1:n.489T>G | ||
| ENST00000528454.5:c.1973T>G | ENSP00000437164.1:p.Leu658Arg | |
| ENST00000528667.5:c.2327T>G | ENSP00000436541.1:p.Leu776Arg | |
| ENST00000528958.1:n.53T>G | ||
| NM_001257360.1:c.2327T>G | NP_001244289.1:p.Leu776Arg | |
| NM_001257361.1:c.1973T>G | NP_001244290.1:p.Leu658Arg | |
| NM_001308170.1:c.2102T>G | NP_001295099.1:p.Leu701Arg | |
| NM_004037.7:c.2327T>G | NP_004028.3:p.Leu776Arg | |
| NM_139156.3:c.2084T>G | NP_631895.1:p.Leu695Arg | |
| NM_203404.1:c.1970T>G | NP_981949.1:p.Leu657Arg | |
| XM_011541247.1:c.2540T>G | XP_011539549.1:p.Leu847Arg | |
| XR_946607.1:n.2442T>G | ||
| XM_024446431.1:c.2102T>G | XP_024302199.1:p.Leu701Arg | |
| XM_024446432.1:c.2024T>G | XP_024302200.1:p.Leu675Arg | |
| XR_002956282.1:n.2617T>G | ||
| NM_001257360.2:c.2327T>G | NP_001244289.1:p.Leu776Arg | |
| NM_001368809.2:c.2165T>G MANE Select | NP_001355738.1:p.Leu722Arg | |
| NM_004037.9:c.2165T>G | NP_004028.4:p.Leu722Arg | |
| NM_001257361.2:c.1973T>G | NP_001244290.1:p.Leu658Arg | |
| NM_139156.4:c.2084T>G | NP_631895.1:p.Leu695Arg |