Revel Score:
ENST00000369840
0.081
ENST00000476688
0.058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109630343C>G , CM000663.2:g.109630343C>G | GRCh38 |
| NC_000001.10:g.110172965C>G , CM000663.1:g.110172965C>G | GRCh37 |
| NC_000001.9:g.109974488C>G | NCBI36 |
| NG_034075.1:g.15531C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256578.8:c.2094C>G | ENSP00000256578.4:p.Tyr698Ter | |
| ENST00000358729.9:c.2094C>G | ENSP00000351573.5:p.Tyr698Ter | |
| ENST00000369840.7:c.2094C>G | ENSP00000358855.3:p.Tyr698Ter | |
| ENST00000474459.6:n.2713C>G | ||
| ENST00000476688.3:c.1776C>G | ENSP00000437025.2:p.Tyr592Ter | |
| ENST00000486282.7:n.3348C>G | ||
| ENST00000524975.2:n.2877C>G | ||
| ENST00000525415.2:n.2606C>G | ||
| ENST00000526301.6:n.2157C>G | ||
| ENST00000527846.7:n.1949C>G | ||
| ENST00000528667.7:c.2094C>G MANE Select | ENSP00000436541.2:p.Tyr698Ter | |
| ENST00000531203.6:c.1902C>G | ENSP00000431975.2:p.Tyr634Ter | |
| ENST00000531734.6:c.2013C>G | ENSP00000433739.2:p.Tyr671Ter | |
| ENST00000652975.2:c.*1725C>G | ENSP00000499620.2:n.*1725C>G | |
| ENST00000654851.1:n.1936C>G | ||
| ENST00000655992.1:c.*203C>G | ENSP00000499740.1:n.*203C>G | |
| ENST00000659122.2:c.1930C>G | ENSP00000499621.2:n.1930C>G | |
| ENST00000663749.1:c.*1720C>G | ENSP00000499739.1:n.*1720C>G | |
| ENST00000667949.2:c.1494C>G | ENSP00000499465.2:p.Tyr498Ter | |
| ENST00000668421.1:c.*2035C>G | ENSP00000499362.1:n.*2035C>G | |
| ENST00000679379.1:c.*1846C>G | ENSP00000505528.1:n.*1846C>G | |
| ENST00000679593.1:c.*203C>G | ENSP00000505999.1:n.*203C>G | |
| ENST00000679880.1:n.2630C>G | ||
| ENST00000679892.1:c.*1862C>G | ENSP00000504882.1:n.*1862C>G | |
| ENST00000679981.1:c.*2108C>G | ENSP00000506422.1:n.*2108C>G | |
| ENST00000680132.1:c.*2044C>G | ENSP00000505950.1:n.*2044C>G | |
| ENST00000680148.1:c.*1842C>G | ENSP00000505994.1:n.*1842C>G | |
| ENST00000680170.1:n.2959C>G | ||
| ENST00000680192.1:n.3354C>G | ||
| ENST00000680519.1:n.2330C>G | ||
| ENST00000680531.1:c.*1841C>G | ENSP00000506332.1:n.*1841C>G | |
| ENST00000680820.1:c.*2148C>G | ENSP00000505735.1:n.*2148C>G | |
| ENST00000680832.1:c.*2194C>G | ENSP00000505774.1:n.*2194C>G | |
| ENST00000680929.1:c.*1783C>G | ENSP00000504916.1:n.*1783C>G | |
| ENST00000681108.1:c.*1768C>G | ENSP00000506701.1:n.*1768C>G | |
| ENST00000681121.1:c.*1204C>G | ENSP00000506466.1:n.*1204C>G | |
| ENST00000681132.1:c.*1860C>G | ENSP00000506195.1:n.*1860C>G | |
| ENST00000681181.1:c.*2381C>G | ENSP00000506038.1:n.*2381C>G | |
| ENST00000681218.1:c.*2363C>G | ENSP00000505976.1:n.*2363C>G | |
| ENST00000681246.1:c.*1750C>G | ENSP00000505534.1:n.*1750C>G | |
| ENST00000681496.1:c.*2367C>G | ENSP00000505948.1:n.*2367C>G | |
| ENST00000681834.1:n.2738C>G | ||
| ENST00000681862.1:c.*2220C>G | ENSP00000505537.1:n.*2220C>G | |
| ENST00000256578.7:c.2256C>G | ENSP00000256578.3:p.Tyr752Ter | |
| ENST00000342115.8:c.2013C>G | ENSP00000345498.4:p.Tyr671Ter | |
| ENST00000358729.8:c.2031C>G | ENSP00000351573.4:p.Tyr677Ter | |
| ENST00000369840.6:c.2167C>G | ||
| ENST00000393688.7:c.1899C>G | ENSP00000377292.3:p.Tyr633Ter | |
| ENST00000476688.2:c.422C>G | ||
| ENST00000479919.1:n.418C>G | ||
| ENST00000526301.5:n.2291C>G | ||
| ENST00000528454.5:c.1902C>G | ENSP00000437164.1:p.Tyr634Ter | |
| ENST00000528667.5:c.2256C>G | ENSP00000436541.1:p.Tyr752Ter | |
| NM_001257360.1:c.2256C>G | NP_001244289.1:p.Tyr752Ter | |
| NM_001257361.1:c.1902C>G | NP_001244290.1:p.Tyr634Ter | |
| NM_001308170.1:c.2031C>G | NP_001295099.1:p.Tyr677Ter | |
| NM_004037.7:c.2256C>G | NP_004028.3:p.Tyr752Ter | |
| NM_139156.3:c.2013C>G | NP_631895.1:p.Tyr671Ter | |
| NM_203404.1:c.1899C>G | NP_981949.1:p.Tyr633Ter | |
| XM_011541247.1:c.2469C>G | XP_011539549.1:p.Tyr823Ter | |
| XR_946607.1:n.2371C>G | ||
| XM_024446431.1:c.2031C>G | XP_024302199.1:p.Tyr677Ter | |
| XM_024446432.1:c.1953C>G | XP_024302200.1:p.Tyr651Ter | |
| XR_002956282.1:n.2546C>G | ||
| NM_001257360.2:c.2256C>G | NP_001244289.1:p.Tyr752Ter | |
| NM_001368809.2:c.2094C>G MANE Select | NP_001355738.1:p.Tyr698Ter | |
| NM_004037.9:c.2094C>G | NP_004028.4:p.Tyr698Ter | |
| NM_001257361.2:c.1902C>G | NP_001244290.1:p.Tyr634Ter | |
| NM_139156.4:c.2013C>G | NP_631895.1:p.Tyr671Ter |