Revel Score:
ENST00000345146 (MANE Select)
0.920
ENST00000446179
0.920
ENST00000415913
0.920
ENST00000415282
0.920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208248388C>G , CM000664.2:g.208248388C>G | GRCh38 |
| NC_000002.11:g.209113112C>G , CM000664.1:g.209113112C>G | GRCh37 |
| NC_000002.10:g.208821357C>G | NCBI36 |
| NG_023319.2:g.22687G>C , LRG_610:g.22687G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345146.7:c.395G>C MANE Select | ENSP00000260985.2:p.Arg132Pro | |
| ENST00000345146.6:c.395G>C | ENSP00000260985.2:p.Arg132Pro | |
| ENST00000415282.5:c.395G>C | ENSP00000391075.1:p.Arg132Pro | |
| ENST00000415913.5:c.395G>C | ENSP00000390265.1:p.Arg132Pro | |
| ENST00000446179.5:c.395G>C | ENSP00000410513.1:p.Arg132Pro | |
| ENST00000462386.5:n.608G>C | ||
| NM_001282386.1:c.395G>C , LRG_610t3:c.395G>C | NP_001269315.1:p.Arg132Pro | |
| NM_001282387.1:c.395G>C , LRG_610t2:c.395G>C | NP_001269316.1:p.Arg132Pro | |
| NM_005896.3:c.395G>C , LRG_610t1:c.395G>C | NP_005887.2:p.Arg132Pro | |
| NM_005896.4:c.395G>C MANE Select | NP_005887.2:p.Arg132Pro |