COSMIC:
COSM6047176 (not active)
COSM6047177 (not active)
COSM6047178 (not active)
COSM6047179 (not active)
Revel Score:
ENST00000333602
0.473
ENST00000381916
0.473
ENST00000428187
0.473
ENST00000392400
0.473
ENST00000316664
0.473
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09478447 (EAS)
Genomes Max Group AF
0.0962705 (EAS)
Exomes Max Group AF
0.09382313 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.195884973G>A , CM000665.2:g.195884973G>A | GRCh38 |
| NC_000003.11:g.195611844G>A , CM000665.1:g.195611844G>A | GRCh37 |
| NC_000003.10:g.197096241G>A | NCBI36 |
| NG_029779.1:g.29037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672887.2:c.295C>T MANE Select | ENSP00000499899.1:p.Arg99Trp | |
| ENST00000333602.14:c.295C>T | ENSP00000329425.6:p.Arg99Trp | |
| ENST00000381916.7:c.484C>T | ENSP00000371341.2:p.Arg162Trp | |
| ENST00000428187.7:c.391C>T | ENSP00000392546.1:p.Arg131Trp | |
| ENST00000439230.6:c.295C>T | ENSP00000395588.1:p.Arg99Trp | |
| ENST00000671726.1:n.109+11080C>T | ||
| ENST00000671734.1:c.231-1664C>T | ||
| ENST00000671753.1:c.367C>T | ENSP00000499858.1:p.Arg123Trp | |
| ENST00000672024.1:c.295C>T | ENSP00000500486.1:p.Arg99Trp | |
| ENST00000672145.1:c.487C>T | ENSP00000500464.1:p.Arg163Trp | |
| ENST00000672542.1:c.295C>T | ENSP00000500562.1:p.Arg99Trp | |
| ENST00000672614.1:n.1301C>T | ||
| ENST00000672623.1:c.61C>T | ENSP00000500426.1:p.Arg21Trp | |
| ENST00000672887.1:c.295C>T | ENSP00000499899.1:p.Arg99Trp | |
| ENST00000673038.1:c.391C>T | ENSP00000500452.1:p.Arg131Trp | |
| ENST00000673167.1:n.465C>T | ||
| ENST00000673374.1:c.391C>T | ENSP00000500225.1:p.Arg131Trp | |
| ENST00000673420.1:c.295C>T | ENSP00000500887.1:p.Arg99Trp | |
| ENST00000673443.1:c.*165C>T | ENSP00000500889.1:n.*165C>T | |
| ENST00000678220.1:c.391C>T | ENSP00000503221.1:p.Arg131Trp | |
| ENST00000333602.10:c.295C>T | ENSP00000329425.6:p.Arg99Trp | |
| ENST00000381916.6:c.484C>T | ENSP00000371341.2:p.Arg162Trp | |
| ENST00000428187.5:c.391C>T | ENSP00000392546.1:p.Arg131Trp | |
| ENST00000430929.1:c.61C>T | ENSP00000409462.1:p.Arg21Trp | |
| ENST00000438207.5:c.231-1664C>T | ||
| ENST00000439230.5:c.295C>T | ENSP00000395588.1:p.Arg99Trp | |
| ENST00000447060.5:c.*165C>T | ENSP00000393707.1:n.*165C>T | |
| ENST00000464041.5:n.678C>T | ||
| ENST00000468819.1:n.465C>T | ||
| ENST00000481865.5:n.1301C>T | ||
| ENST00000486523.1:n.109+11080C>T | ||
| NM_001010938.1:c.484C>T | NP_001010938.1:p.Arg162Trp | |
| NM_001308046.1:c.391C>T | NP_001294975.1:p.Arg131Trp | |
| NM_005781.4:c.295C>T | NP_005772.3:p.Arg99Trp | |
| XM_005269268.3:c.484C>T | XP_005269325.1:p.Arg162Trp | |
| XM_005269270.3:c.295C>T | XP_005269327.1:p.Arg99Trp | |
| XM_005269275.3:c.-370C>T | XP_005269332.1:n.-370C>T | |
| XM_011512317.1:c.787C>T | XP_011510619.1:p.Arg263Trp | |
| XM_011512318.1:c.295C>T | XP_011510620.1:p.Arg99Trp | |
| XM_011512319.1:c.295C>T | XP_011510621.1:p.Arg99Trp | |
| XM_011512320.1:c.295C>T | XP_011510622.1:p.Arg99Trp | |
| XM_011512321.1:c.67C>T | XP_011510623.1:p.Arg23Trp | |
| XM_011512317.3:c.787C>T | XP_011510619.1:p.Arg263Trp | |
| XM_011512318.2:c.391C>T | XP_011510620.2:p.Arg131Trp | |
| XM_011512321.2:c.67C>T | XP_011510623.1:p.Arg23Trp | |
| XM_017005508.1:c.391C>T | XP_016860997.1:p.Arg131Trp | |
| XM_017005509.1:c.391C>T | XP_016860998.1:p.Arg131Trp | |
| XM_017005510.1:c.391C>T | XP_016860999.1:p.Arg131Trp | |
| XM_024453291.1:c.487C>T | XP_024309059.1:p.Arg163Trp | |
| XM_024453292.1:c.346C>T | XP_024309060.1:p.Arg116Trp | |
| XM_024453293.1:c.295C>T | XP_024309061.1:p.Arg99Trp | |
| XM_024453294.1:c.295C>T | XP_024309062.1:p.Arg99Trp | |
| XM_024453295.1:c.295C>T | XP_024309063.1:p.Arg99Trp | |
| NM_001010938.2:c.367C>T | NP_001010938.2:p.Arg123Trp | |
| NM_001308046.2:c.391C>T | NP_001294975.1:p.Arg131Trp | |
| NM_001382271.1:c.391C>T | NP_001369200.1:p.Arg131Trp | |
| NM_001382272.1:c.367C>T | NP_001369201.1:p.Arg123Trp | |
| NM_001382273.1:c.295C>T MANE Select | NP_001369202.1:p.Arg99Trp | |
| NM_001382274.1:c.295C>T | NP_001369203.1:p.Arg99Trp | |
| NM_001382275.1:c.391C>T | NP_001369204.1:p.Arg131Trp | |
| NM_001386164.1:c.295C>T | NP_001373093.1:p.Arg99Trp | |
| NM_001387707.1:c.391C>T | NP_001374636.1:p.Arg131Trp | |
| NM_001387708.1:c.367C>T | NP_001374637.1:p.Arg123Trp | |
| NM_001387709.1:c.295C>T | NP_001374638.1:p.Arg99Trp | |
| NM_001387710.1:c.295C>T | NP_001374639.1:p.Arg99Trp | |
| NM_001387711.1:c.295C>T | NP_001374640.1:p.Arg99Trp | |
| NM_001387712.1:c.295C>T | NP_001374641.1:p.Arg99Trp | |
| NM_001387713.1:c.295C>T | NP_001374642.1:p.Arg99Trp | |
| NM_001387714.1:c.295C>T | NP_001374643.1:p.Arg99Trp | |
| NM_001387715.1:c.367C>T | NP_001374644.1:p.Arg123Trp | |
| NM_001387716.1:c.295C>T | NP_001374645.1:p.Arg99Trp | |
| NM_001387717.1:c.295C>T | NP_001374646.1:p.Arg99Trp | |
| NM_001387718.1:c.295C>T | NP_001374647.1:p.Arg99Trp | |
| NM_001387719.1:c.295C>T | NP_001374648.1:p.Arg99Trp | |
| NM_001387720.1:c.295C>T | NP_001374649.1:p.Arg99Trp | |
| NM_001387721.1:c.295C>T | NP_001374650.1:p.Arg99Trp | |
| NM_005781.5:c.295C>T | NP_005772.3:p.Arg99Trp | |
| NR_170678.1:n.647C>T | ||
| NR_170679.1:n.647C>T | ||
| NR_170680.1:n.380C>T | ||
| NR_170681.1:n.380C>T | ||
| NR_170682.1:n.647C>T | ||
| NR_170683.1:n.647C>T | ||
| NR_170684.1:n.511C>T | ||
| NR_170685.1:n.492C>T | ||
| NR_170686.1:n.405C>T | ||
| NR_170687.1:n.361C>T | ||
| NR_170688.1:n.647C>T | ||
| NR_170689.1:n.569C>T | ||
| NR_170690.1:n.380C>T | ||
| NR_170691.1:n.492C>T | ||
| NR_170692.1:n.380C>T |