Revel Score:
ENST00000231188
0.918
ENST00000517717 (MANE Select)
0.918
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178983005C>G , CM000667.2:g.178983005C>G | GRCh38 |
| NC_000005.9:g.178410006C>G , CM000667.1:g.178410006C>G | GRCh37 |
| NC_000005.8:g.178342612C>G | NCBI36 |
| NG_008105.1:g.17119G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.2341G>C MANE Select | ENSP00000430767.1:p.Glu781Gln | |
| ENST00000650031.1:c.2341G>C | ENSP00000497110.1:p.Glu781Gln | |
| ENST00000650488.1:n.1064G>C | ||
| ENST00000231188.9:c.2341G>C | ENSP00000231188.5:p.Glu781Gln | |
| ENST00000517717.1:c.2341G>C | ENSP00000430767.1:p.Glu781Gln | |
| ENST00000519003.1:n.340G>C | ||
| NM_000843.3:c.2341G>C | NP_000834.2:p.Glu781Gln | |
| XR_941310.1:n.1470-6742C>G | ||
| NM_000843.4:c.2341G>C MANE Select | NP_000834.2:p.Glu781Gln |