Revel Score:
ENST00000155840 (MANE Select)
0.984
ENST00000335475
0.984
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583459G>A , CM000673.2:g.2583459G>A | GRCh38 |
| NC_000011.9:g.2604689G>A , CM000673.1:g.2604689G>A | GRCh37 |
| NC_000011.8:g.2561265G>A | NCBI36 |
| NG_008935.1:g.143469G>A , LRG_287:g.143469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.685G>A | ENSP00000434560.2:p.Gly229Arg | |
| ENST00000646564.2:c.502G>A | ENSP00000495806.2:p.Gly168Arg | |
| ENST00000155840.12:c.946G>A MANE Select | ENSP00000155840.2:p.Gly316Arg | |
| ENST00000335475.6:c.565G>A | ENSP00000334497.5:p.Gly189Arg | |
| ENST00000646564.1:c.148G>A | ENSP00000495806.1:p.Gly50Arg | |
| ENST00000155840.9:c.946G>A | ENSP00000155840.2:p.Gly316Arg | |
| ENST00000335475.5:c.565G>A | ENSP00000334497.5:p.Gly189Arg | |
| NM_000218.2:c.946G>A , LRG_287t1:c.946G>A | NP_000209.2:p.Gly316Arg | |
| NM_181798.1:c.565G>A , LRG_287t2:c.565G>A | NP_861463.1:p.Gly189Arg | |
| NM_000218.3:c.946G>A MANE Select | NP_000209.2:p.Gly316Arg |