Revel Score:
ENST00000155840 (MANE Select)
0.975
ENST00000335475
0.975
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583453G>C , CM000673.2:g.2583453G>C | GRCh38 |
| NC_000011.9:g.2604683G>C , CM000673.1:g.2604683G>C | GRCh37 |
| NC_000011.8:g.2561259G>C | NCBI36 |
| NG_008935.1:g.143463G>C , LRG_287:g.143463G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.679G>C | ENSP00000434560.2:p.Gly227Arg | |
| ENST00000646564.2:c.496G>C | ENSP00000495806.2:p.Gly166Arg | |
| ENST00000155840.12:c.940G>C MANE Select | ENSP00000155840.2:p.Gly314Arg | |
| ENST00000335475.6:c.559G>C | ENSP00000334497.5:p.Gly187Arg | |
| ENST00000646564.1:c.142G>C | ENSP00000495806.1:p.Gly48Arg | |
| ENST00000155840.9:c.940G>C | ENSP00000155840.2:p.Gly314Arg | |
| ENST00000335475.5:c.559G>C | ENSP00000334497.5:p.Gly187Arg | |
| NM_000218.2:c.940G>C , LRG_287t1:c.940G>C | NP_000209.2:p.Gly314Arg | |
| NM_181798.1:c.559G>C , LRG_287t2:c.559G>C | NP_861463.1:p.Gly187Arg | |
| NM_000218.3:c.940G>C MANE Select | NP_000209.2:p.Gly314Arg |