Revel Score:
ENST00000347330
0.771
ENST00000338641 (MANE Select)
0.771
ENST00000403435
0.771
ENST00000361452
0.771
ENST00000397822
0.771
ENST00000403999
0.771
ENST00000334961
0.771
ENST00000353887
0.771
ENST00000397789
0.771
ENST00000361676
0.771
ENST00000361166
0.771
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29661313C>G , CM000684.2:g.29661313C>G | GRCh38 |
| NC_000022.10:g.30057302C>G , CM000684.1:g.30057302C>G | GRCh37 |
| NC_000022.9:g.28387302C>G | NCBI36 |
| NG_009057.1:g.62758C>G , LRG_511:g.62758C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.675+3049C>G | ENSP00000354529.6:n.675+3049C>G | |
| ENST00000673312.2:c.*278C>G | ENSP00000500186.2:n.*278C>G | |
| ENST00000338641.10:c.784C>G MANE Select | ENSP00000344666.5:p.Arg262Gly | |
| ENST00000361166.9:c.228+3049C>G | ENSP00000354529.5:n.228+3049C>G | |
| ENST00000672461.1:c.784C>G | ENSP00000500919.1:p.Arg262Gly | |
| ENST00000672805.1:c.*666C>G | ENSP00000500295.1:n.*666C>G | |
| ENST00000672896.1:c.784C>G | ENSP00000500117.1:p.Arg262Gly | |
| ENST00000673312.1:c.803C>G | ENSP00000500186.1:n.803C>G | |
| ENST00000334961.11:c.535C>G | ENSP00000335652.7:p.Arg179Gly | |
| ENST00000338641.8:c.784C>G | ENSP00000344666.4:p.Arg262Gly | |
| ENST00000353887.8:c.535C>G | ENSP00000340626.4:p.Arg179Gly | |
| ENST00000361166.8:c.784C>G | ENSP00000354529.4:p.Arg262Gly | |
| ENST00000361452.8:c.661C>G | ENSP00000354897.4:p.Arg221Gly | |
| ENST00000361676.8:c.658C>G | ENSP00000355183.4:p.Arg220Gly | |
| ENST00000397789.3:c.784C>G | ENSP00000380891.3:p.Arg262Gly | |
| ENST00000403435.5:c.784C>G | ENSP00000384029.1:p.Arg262Gly | |
| ENST00000403999.7:c.784C>G | ENSP00000384797.3:p.Arg262Gly | |
| ENST00000413209.6:c.447+19028C>G | ENSP00000409921.2:n.447+19028C>G | |
| ENST00000432151.5:c.307C>G | ENSP00000395885.1:p.Arg103Gly | |
| NM_000268.3:c.784C>G , LRG_511t1:c.784C>G | NP_000259.1:p.Arg262Gly | |
| NM_016418.5:c.784C>G , LRG_511t2:c.784C>G | NP_057502.2:p.Arg262Gly | |
| NM_181825.2:c.784C>G | NP_861546.1:p.Arg262Gly | |
| NM_181828.2:c.658C>G | NP_861966.1:p.Arg220Gly | |
| NM_181829.2:c.661C>G | NP_861967.1:p.Arg221Gly | |
| NM_181830.2:c.535C>G | NP_861968.1:p.Arg179Gly | |
| NM_181831.2:c.535C>G | NP_861969.1:p.Arg179Gly | |
| NM_181832.2:c.784C>G | NP_861970.1:p.Arg262Gly | |
| NM_181833.2:c.447+19028C>G | NP_861971.1:n.447+19028C>G | |
| NR_156186.1:n.1343C>G | ||
| XM_017028809.2:c.670C>G | XP_016884298.1:p.Arg224Gly | |
| XM_017028810.1:c.670C>G | XP_016884299.1:p.Arg224Gly | |
| NM_000268.4:c.784C>G MANE Select | NP_000259.1:p.Arg262Gly | |
| NM_181825.3:c.784C>G | NP_861546.1:p.Arg262Gly | |
| NM_181828.3:c.658C>G | NP_861966.1:p.Arg220Gly | |
| NM_181829.3:c.661C>G | NP_861967.1:p.Arg221Gly | |
| NM_181830.3:c.535C>G | NP_861968.1:p.Arg179Gly | |
| NM_181831.3:c.535C>G | NP_861969.1:p.Arg179Gly | |
| NM_181832.3:c.784C>G | NP_861970.1:p.Arg262Gly | |
| NR_156186.2:n.1266C>G | ||
| NM_181833.3:c.447+19028C>G | NP_861971.1:n.447+19028C>G |