Revel Score:
ENST00000545968 (MANE Select)
0.397
ENST00000399249
0.397
ENST00000256993
0.397
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337534C>G , CM000673.2:g.47337534C>G | GRCh38 |
| NC_000011.9:g.47359085C>G , CM000673.1:g.47359085C>G | GRCh37 |
| NC_000011.8:g.47315661C>G | NCBI36 |
| NG_007667.1:g.20169G>C , LRG_386:g.20169G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.2459G>C MANE Select | ENSP00000442795.1:p.Arg820Pro | |
| ENST00000256993.8:c.2459G>C | ENSP00000256993.5:p.Arg820Pro | |
| ENST00000399249.6:c.2459G>C | ENSP00000382193.2:p.Arg820Pro | |
| ENST00000544791.1:c.2414-23G>C | ENSP00000444259.1:n.2414-23G>C | |
| ENST00000545968.5:c.2459G>C | ENSP00000442795.1:p.Arg820Pro | |
| NM_000256.3:c.2459G>C , LRG_386t1:c.2459G>C MANE Select | NP_000247.2:p.Arg820Pro | |
| XM_011520117.1:c.2441G>C | XP_011518419.1:p.Arg814Pro | |
| XM_011520118.1:c.2378G>C | XP_011518420.1:p.Arg793Pro |