Revel Score:
ENST00000274576 (MANE Select)
0.908
ENST00000455880
0.908
ENST00000545569
0.908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851527T>G , CM000667.2:g.151851527T>G | GRCh38 |
| NC_000005.9:g.151231088T>G , CM000667.1:g.151231088T>G | GRCh37 |
| NC_000005.8:g.151211281T>G | NCBI36 |
| NG_011764.1:g.78310A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.775A>C MANE Select | ENSP00000274576.5:p.Ser259Arg | |
| ENST00000274576.8:c.775A>C | ENSP00000274576.4:p.Ser259Arg | |
| ENST00000455880.2:c.775A>C | ENSP00000411593.2:p.Ser259Arg | |
| ENST00000462581.6:c.*533A>C | ENSP00000430595.1:n.*533A>C | |
| ENST00000471351.2:n.1058A>C | ||
| NM_000171.3:c.775A>C | NP_000162.2:p.Ser259Arg | |
| NM_001146040.1:c.775A>C | NP_001139512.1:p.Ser259Arg | |
| NM_001292000.1:c.526A>C | NP_001278929.1:p.Ser176Arg | |
| XM_005268412.2:c.775A>C | XP_005268469.1:p.Ser259Arg | |
| NM_000171.4:c.775A>C MANE Select | NP_000162.2:p.Ser259Arg | |
| NM_001146040.2:c.775A>C | NP_001139512.1:p.Ser259Arg | |
| NM_001292000.2:c.526A>C | NP_001278929.1:p.Ser176Arg |