Revel Score:
ENST00000284548
0.209
ENST00000422127
0.209
ENST00000366707
0.209
ENST00000366709
0.209
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228315865G>T , CM000663.2:g.228315865G>T | GRCh38 |
| NC_000001.10:g.228503566G>T , CM000663.1:g.228503566G>T | GRCh37 |
| NC_000001.9:g.226570189G>T | NCBI36 |
| NG_032122.1:g.112706G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284548.16:c.13031G>T | ENSP00000284548.11:p.Arg4344Leu | |
| ENST00000570156.7:c.15902G>T | ENSP00000455507.2:p.Arg5301Leu | |
| ENST00000636476.2:c.13031G>T | ENSP00000489816.2:p.Arg4344Leu | |
| ENST00000660857.1:c.635G>T | ENSP00000499428.1:p.Arg212Leu | |
| ENST00000662438.1:c.14576G>T | ENSP00000499633.1:p.Arg4859Leu | |
| ENST00000680850.1:c.15902G>T MANE Select | ENSP00000505517.1:p.Arg5301Leu | |
| ENST00000284548.15:c.13031G>T | ENSP00000284548.11:p.Arg4344Leu | |
| ENST00000366707.8:c.15902G>T | ENSP00000355668.5:p.Arg5301Leu | |
| ENST00000422127.5:c.13031G>T | ENSP00000409493.1:p.Arg4344Leu | |
| ENST00000483539.2:c.4693+11412G>T | ||
| ENST00000570156.6:c.15902G>T | ENSP00000455507.2:p.Arg5301Leu | |
| NM_001098623.2:c.13031G>T | NP_001092093.2:p.Arg4344Leu | |
| NM_001271223.2:c.15902G>T | NP_001258152.2:p.Arg5301Leu | |
| NM_052843.3:c.13031G>T | NP_443075.3:p.Arg4344Leu | |
| XM_005273287.3:c.16202G>T | XP_005273344.1:p.Arg5401Leu | |
| XM_005273288.3:c.16202G>T | XP_005273345.1:p.Arg5401Leu | |
| XM_005273289.3:c.16202G>T | XP_005273346.1:p.Arg5401Leu | |
| XM_005273290.3:c.16202G>T | XP_005273347.1:p.Arg5401Leu | |
| XM_005273291.3:c.16166G>T | XP_005273348.1:p.Arg5389Leu | |
| XM_005273292.3:c.15938G>T | XP_005273349.1:p.Arg5313Leu | |
| XM_005273293.3:c.15938G>T | XP_005273350.1:p.Arg5313Leu | |
| XM_005273294.3:c.15938G>T | XP_005273351.1:p.Arg5313Leu | |
| XM_005273295.3:c.15926G>T | XP_005273352.1:p.Arg5309Leu | |
| XM_005273296.3:c.15926G>T | XP_005273353.1:p.Arg5309Leu | |
| XM_005273297.3:c.15926G>T | XP_005273354.1:p.Arg5309Leu | |
| XM_005273298.3:c.15893G>T | XP_005273355.1:p.Arg5298Leu | |
| XM_005273299.3:c.15674G>T | XP_005273356.1:p.Arg5225Leu | |
| XM_005273300.3:c.15674G>T | XP_005273357.1:p.Arg5225Leu | |
| XM_005273301.3:c.15674G>T | XP_005273358.1:p.Arg5225Leu | |
| XM_005273302.3:c.15650G>T | XP_005273359.1:p.Arg5217Leu | |
| XM_005273304.3:c.15410G>T | XP_005273361.1:p.Arg5137Leu | |
| XM_005273305.3:c.15146G>T | XP_005273362.1:p.Arg5049Leu | |
| XM_005273307.3:c.15080G>T | XP_005273364.1:p.Arg5027Leu | |
| XM_005273309.3:c.16202G>T | XP_005273366.1:p.Arg5401Leu | |
| XM_005273310.3:c.16202G>T | XP_005273367.1:p.Arg5401Leu | |
| XM_006711819.2:c.16052G>T | XP_006711882.1:p.Arg5351Leu | |
| XM_006711820.2:c.15938G>T | XP_006711883.1:p.Arg5313Leu | |
| XM_006711821.2:c.15662G>T | XP_006711884.1:p.Arg5221Leu | |
| XM_006711822.2:c.15626G>T | XP_006711885.1:p.Arg5209Leu | |
| XM_006711823.2:c.15626G>T | XP_006711886.1:p.Arg5209Leu | |
| XM_006711824.2:c.14618G>T | XP_006711887.1:p.Arg4873Leu | |
| XM_006711825.2:c.13298G>T | XP_006711888.1:p.Arg4433Leu | |
| XM_006711826.2:c.16202G>T | XP_006711889.1:p.Arg5401Leu | |
| XM_006711827.2:c.14042G>T | XP_006711890.1:p.Arg4681Leu | |
| XM_006711828.2:c.15902G>T | XP_006711891.1:p.Arg5301Leu | |
| XM_006711829.2:c.13766G>T | XP_006711892.1:p.Arg4589Leu | |
| XM_011544290.1:c.15926G>T | XP_011542592.1:p.Arg5309Leu | |
| XM_011544291.1:c.15629G>T | XP_011542593.1:p.Arg5210Leu | |
| XM_011544292.1:c.15410G>T | XP_011542594.1:p.Arg5137Leu | |
| XM_011544293.1:c.15410G>T | XP_011542595.1:p.Arg5137Leu | |
| XM_011544294.1:c.15410G>T | XP_011542596.1:p.Arg5137Leu | |
| XM_011544295.1:c.15098G>T | XP_011542597.1:p.Arg5033Leu | |
| XM_011544296.1:c.14354G>T | XP_011542598.1:p.Arg4785Leu | |
| XM_011544297.1:c.14042G>T | XP_011542599.1:p.Arg4681Leu | |
| XM_011544299.1:c.13766G>T | XP_011542601.1:p.Arg4589Leu | |
| XM_005273287.5:c.16202G>T | XP_005273344.1:p.Arg5401Leu | |
| XM_005273291.5:c.16166G>T | XP_005273348.1:p.Arg5389Leu | |
| XM_005273298.5:c.15893G>T | XP_005273355.1:p.Arg5298Leu | |
| XM_005273307.5:c.15080G>T | XP_005273364.1:p.Arg5027Leu | |
| XM_006711822.4:c.15626G>T | XP_006711885.1:p.Arg5209Leu | |
| XM_006711823.4:c.15626G>T | XP_006711886.1:p.Arg5209Leu | |
| XM_006711827.4:c.14042G>T | XP_006711890.1:p.Arg4681Leu | |
| XM_006711829.4:c.13766G>T | XP_006711892.1:p.Arg4589Leu | |
| XM_011544297.3:c.14042G>T | XP_011542599.1:p.Arg4681Leu | |
| XM_011544299.3:c.13766G>T | XP_011542601.1:p.Arg4589Leu | |
| XM_017002443.2:c.16247G>T | XP_016857932.1:p.Arg5416Leu | |
| XM_017002444.2:c.16247G>T | XP_016857933.1:p.Arg5416Leu | |
| XM_017002445.2:c.16247G>T | XP_016857934.1:p.Arg5416Leu | |
| XM_017002446.2:c.16247G>T | XP_016857935.1:p.Arg5416Leu | |
| XM_017002447.2:c.16247G>T | XP_016857936.1:p.Arg5416Leu | |
| XM_017002448.2:c.16097G>T | XP_016857937.1:p.Arg5366Leu | |
| XM_017002449.2:c.15983G>T | XP_016857938.1:p.Arg5328Leu | |
| XM_017002450.2:c.15983G>T | XP_016857939.1:p.Arg5328Leu | |
| XM_017002451.2:c.15983G>T | XP_016857940.1:p.Arg5328Leu | |
| XM_017002452.2:c.15983G>T | XP_016857941.1:p.Arg5328Leu | |
| XM_017002453.2:c.15971G>T | XP_016857942.1:p.Arg5324Leu | |
| XM_017002454.2:c.15971G>T | XP_016857943.1:p.Arg5324Leu | |
| XM_017002455.2:c.15971G>T | XP_016857944.1:p.Arg5324Leu | |
| XM_017002456.2:c.15971G>T | XP_016857945.1:p.Arg5324Leu | |
| XM_017002457.2:c.15971G>T | XP_016857946.1:p.Arg5324Leu | |
| XM_017002458.2:c.15719G>T | XP_016857947.1:p.Arg5240Leu | |
| XM_017002459.2:c.15719G>T | XP_016857948.1:p.Arg5240Leu | |
| XM_017002460.2:c.15719G>T | XP_016857949.1:p.Arg5240Leu | |
| XM_017002461.2:c.15707G>T | XP_016857950.1:p.Arg5236Leu | |
| XM_017002462.2:c.15695G>T | XP_016857951.1:p.Arg5232Leu | |
| XM_017002463.2:c.15674G>T | XP_016857952.1:p.Arg5225Leu | |
| XM_017002464.2:c.15626G>T | XP_016857953.1:p.Arg5209Leu | |
| XM_017002465.2:c.15455G>T | XP_016857954.1:p.Arg5152Leu | |
| XM_017002466.2:c.15455G>T | XP_016857955.1:p.Arg5152Leu | |
| XM_017002467.2:c.15455G>T | XP_016857956.1:p.Arg5152Leu | |
| XM_017002468.2:c.15191G>T | XP_016857957.1:p.Arg5064Leu | |
| XM_017002469.2:c.14663G>T | XP_016857958.1:p.Arg4888Leu | |
| XM_017002470.2:c.13343G>T | XP_016857959.1:p.Arg4448Leu | |
| XM_017002471.2:c.16247G>T | XP_016857960.1:p.Arg5416Leu | |
| XM_017002472.2:c.16247G>T | XP_016857961.1:p.Arg5416Leu | |
| XM_017002473.2:c.16247G>T | XP_016857962.1:p.Arg5416Leu | |
| XR_001737476.2:n.23130G>T | ||
| NM_052843.4:c.13031G>T | NP_443075.3:p.Arg4344Leu | |
| NM_001271223.3:c.15902G>T | NP_001258152.2:p.Arg5301Leu | |
| NM_001386125.1:c.15902G>T MANE Select | NP_001373054.1:p.Arg5301Leu |