Revel Score:
ENST00000354914 (MANE Select)
0.938
ENST00000380385
0.938
ENST00000517320
0.938
ENST00000524352
0.938
ENST00000518030
0.938
ENST00000301906
0.938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27907238C>G , CM000670.2:g.27907238C>G | GRCh38 |
| NC_000008.10:g.27764755C>G , CM000670.1:g.27764755C>G | GRCh37 |
| NC_000008.9:g.27820674C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354914.8:c.1006G>C MANE Select | ENSP00000346990.3:p.Gly336Arg | |
| ENST00000354914.7:c.1006G>C | ENSP00000346990.3:p.Gly336Arg | |
| ENST00000380385.6:c.331G>C | ENSP00000369746.2:p.Gly111Arg | |
| ENST00000518030.1:c.877G>C | ENSP00000430713.1:p.Gly293Arg | |
| ENST00000524352.5:c.1006G>C | ENSP00000428663.1:p.Gly336Arg | |
| NM_173833.5:c.1006G>C | NP_776194.2:p.Gly336Arg | |
| XR_949612.1:n.555-1752C>G | ||
| XR_949613.1:n.555-1752C>G | ||
| XR_001745855.2:n.590-1752C>G | ||
| XR_001745856.2:n.595-1752C>G | ||
| XR_949613.3:n.595-1752C>G | ||
| NM_173833.6:c.1006G>C MANE Select | NP_776194.2:p.Gly336Arg |