Revel Score:
ENST00000340650 (MANE Select)
0.270
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122275G>C , CM000668.2:g.18122275G>C | GRCh38 |
| NC_000006.11:g.18122506G>C , CM000668.1:g.18122506G>C | GRCh37 |
| NC_000006.10:g.18230485G>C | NCBI36 |
| NG_016750.1:g.5346C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340650.6:c.332C>G MANE Select | ENSP00000345464.3:p.Pro111Arg | |
| ENST00000340650.4:c.332C>G | ENSP00000345464.3:p.Pro111Arg | |
| NM_198586.2:c.332C>G | NP_940988.2:p.Pro111Arg | |
| NM_198586.3:c.332C>G MANE Select | NP_940988.2:p.Pro111Arg |