Revel Score:
ENST00000263398
0.206
ENST00000526025
0.206
ENST00000415148
0.206
ENST00000433354
0.206
ENST00000449691
0.206
ENST00000437706
0.206
ENST00000360158
0.206
ENST00000428726 (MANE Select)
0.206
ENST00000433892
0.206
ENST00000278386
0.206
ENST00000434472
0.206
ENST00000352818
0.206
ENST00000525211
0.206
ENST00000526669
0.206
ENST00000526000
0.206
ENST00000279452
0.206
ENST00000442151
0.085
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35176643C>G , CM000673.2:g.35176643C>G | GRCh38 |
| NC_000011.9:g.35198190C>G , CM000673.1:g.35198190C>G | GRCh37 |
| NC_000011.8:g.35154766C>G | NCBI36 |
| NG_008937.1:g.42774C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263398.11:c.136C>G | ENSP00000263398.6:p.Arg46Gly | |
| ENST00000428726.8:c.136C>G MANE Select | ENSP00000398632.2:p.Arg46Gly | |
| ENST00000525211.6:c.136C>G | ENSP00000432405.2:p.Arg46Gly | |
| ENST00000526000.6:c.69C>G | ||
| ENST00000526025.2:c.136C>G | ENSP00000435377.1:p.Arg46Gly | |
| ENST00000527889.6:c.3C>G | ||
| ENST00000263398.10:c.136C>G | ENSP00000263398.6:p.Arg46Gly | |
| ENST00000278386.10:c.136C>G | ENSP00000278386.6:p.Arg46Gly | |
| ENST00000279452.10:c.16C>G | ENSP00000279452.6:p.Arg6Gly | |
| ENST00000352818.8:c.136C>G | ENSP00000309732.6:p.Arg46Gly | |
| ENST00000415148.6:c.136C>G | ENSP00000389830.2:p.Arg46Gly | |
| ENST00000425428.6:c.136C>G | ENSP00000395953.2:p.Arg46Gly | |
| ENST00000428726.6:c.136C>G | ENSP00000398632.2:p.Arg46Gly | |
| ENST00000433892.6:c.136C>G | ENSP00000392331.2:p.Arg46Gly | |
| ENST00000434472.6:c.136C>G | ENSP00000404447.2:p.Arg46Gly | |
| ENST00000442151.6:c.134C>G | ||
| ENST00000525211.5:c.73C>G | ENSP00000432405.1:p.Arg25Gly | |
| ENST00000526000.5:c.70C>G | ENSP00000434465.1:p.Arg24Gly | |
| ENST00000526025.1:c.136C>G | ENSP00000435377.1:p.Arg46Gly | |
| ENST00000526669.6:c.136C>G | ENSP00000432704.2:p.Arg46Gly | |
| ENST00000527889.5:c.3C>G | ||
| ENST00000528086.5:n.269C>G | ||
| NM_000610.3:c.136C>G | NP_000601.3:p.Arg46Gly | |
| NM_001001389.1:c.136C>G | NP_001001389.1:p.Arg46Gly | |
| NM_001001390.1:c.136C>G | NP_001001390.1:p.Arg46Gly | |
| NM_001001391.1:c.136C>G | NP_001001391.1:p.Arg46Gly | |
| NM_001001392.1:c.136C>G | NP_001001392.1:p.Arg46Gly | |
| NM_001202555.1:c.136C>G | NP_001189484.1:p.Arg46Gly | |
| NM_001202556.1:c.136C>G | NP_001189485.1:p.Arg46Gly | |
| NM_001202557.1:c.136C>G | NP_001189486.1:p.Arg46Gly | |
| XM_005253231.2:c.136C>G | XP_005253288.1:p.Arg46Gly | |
| XM_005253232.2:c.136C>G | XP_005253289.1:p.Arg46Gly | |
| XM_005253233.2:c.136C>G | XP_005253290.1:p.Arg46Gly | |
| XM_005253234.2:c.136C>G | XP_005253291.1:p.Arg46Gly | |
| XM_005253235.2:c.136C>G | XP_005253292.1:p.Arg46Gly | |
| XM_005253238.2:c.136C>G | XP_005253295.1:p.Arg46Gly | |
| XM_005253239.2:c.136C>G | XP_005253296.1:p.Arg46Gly | |
| XM_005253240.2:c.136C>G | XP_005253297.1:p.Arg46Gly | |
| XM_006718388.1:c.136C>G | XP_006718451.1:p.Arg46Gly | |
| XM_006718390.2:c.136C>G | XP_006718453.1:p.Arg46Gly | |
| XM_011520482.1:c.136C>G | XP_011518784.1:p.Arg46Gly | |
| XM_011520483.1:c.136C>G | XP_011518785.1:p.Arg46Gly | |
| XM_011520484.1:c.136C>G | XP_011518786.1:p.Arg46Gly | |
| XM_011520485.1:c.136C>G | XP_011518787.1:p.Arg46Gly | |
| XM_011520486.1:c.136C>G | XP_011518788.1:p.Arg46Gly | |
| XM_011520487.1:c.136C>G | XP_011518789.1:p.Arg46Gly | |
| XM_011520488.1:c.136C>G | XP_011518790.1:p.Arg46Gly | |
| XM_011520489.1:c.136C>G | XP_011518791.1:p.Arg46Gly | |
| XM_005253231.3:c.136C>G | XP_005253288.1:p.Arg46Gly | |
| XM_005253232.3:c.136C>G | XP_005253289.1:p.Arg46Gly | |
| XM_005253235.3:c.136C>G | XP_005253292.1:p.Arg46Gly | |
| XM_005253238.3:c.136C>G | XP_005253295.1:p.Arg46Gly | |
| XM_005253239.3:c.136C>G | XP_005253296.1:p.Arg46Gly | |
| XM_005253240.3:c.136C>G | XP_005253297.1:p.Arg46Gly | |
| XM_006718388.2:c.136C>G | XP_006718451.1:p.Arg46Gly | |
| XM_006718390.4:c.136C>G | XP_006718453.1:p.Arg46Gly | |
| XM_011520482.2:c.136C>G | XP_011518784.1:p.Arg46Gly | |
| XM_011520483.2:c.136C>G | XP_011518785.1:p.Arg46Gly | |
| XM_011520484.2:c.136C>G | XP_011518786.1:p.Arg46Gly | |
| XM_011520485.2:c.136C>G | XP_011518787.1:p.Arg46Gly | |
| XM_011520486.2:c.136C>G | XP_011518788.1:p.Arg46Gly | |
| XM_011520487.3:c.136C>G | XP_011518789.1:p.Arg46Gly | |
| XM_011520488.2:c.136C>G | XP_011518790.1:p.Arg46Gly | |
| XM_011520489.3:c.136C>G | XP_011518791.1:p.Arg46Gly | |
| XM_017018583.2:c.136C>G | XP_016874072.1:p.Arg46Gly | |
| XM_017018584.2:c.136C>G | XP_016874073.1:p.Arg46Gly | |
| XM_017018585.2:c.136C>G | XP_016874074.1:p.Arg46Gly | |
| NM_000610.4:c.136C>G MANE Select | NP_000601.3:p.Arg46Gly | |
| NM_001001389.2:c.136C>G | NP_001001389.1:p.Arg46Gly | |
| NM_001001390.2:c.136C>G | NP_001001390.1:p.Arg46Gly | |
| NM_001001391.2:c.136C>G | NP_001001391.1:p.Arg46Gly | |
| NM_001001392.2:c.136C>G | NP_001001392.1:p.Arg46Gly | |
| NM_001202555.2:c.136C>G | NP_001189484.1:p.Arg46Gly | |
| NM_001202556.2:c.136C>G | NP_001189485.1:p.Arg46Gly | |
| NM_001202557.2:c.136C>G | NP_001189486.1:p.Arg46Gly |