Revel Score:
ENST00000378961 (MANE Select)
0.005
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5923382C>G , CM000682.2:g.5923382C>G | GRCh38 |
| NC_000020.10:g.5904028C>G , CM000682.1:g.5904028C>G | GRCh37 |
| NC_000020.9:g.5852028C>G | NCBI36 |
| NG_042285.1:g.17055C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378961.9:c.1238C>G MANE Select | ENSP00000368244.4:p.Pro413Arg | |
| ENST00000378961.8:c.1238C>G | ENSP00000368244.4:p.Pro413Arg | |
| NM_001819.2:c.1238C>G | NP_001810.2:p.Pro413Arg | |
| NM_001819.3:c.1238C>G MANE Select | NP_001810.2:p.Pro413Arg |