Revel Score:
ENST00000219240 (MANE Select)
0.456
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72021201C>A , CM000678.2:g.72021201C>A | GRCh38 |
| NC_000016.9:g.72055100C>A , CM000678.1:g.72055100C>A | GRCh37 |
| NC_000016.8:g.70612601C>A | NCBI36 |
| NG_016271.1:g.17458C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.595C>A MANE Select | ENSP00000219240.4:p.Arg199Ser | |
| ENST00000219240.8:c.595C>A | ENSP00000219240.4:p.Arg199Ser | |
| ENST00000571392.1:n.1485-1964C>A | ||
| ENST00000572003.5:n.512C>A | ||
| ENST00000572887.5:c.595C>A | ENSP00000461848.1:p.Arg199Ser | |
| ENST00000573922.5:n.314-1964C>A | ||
| ENST00000574309.5:c.514-2944C>A | ||
| NM_001361.4:c.595C>A | NP_001352.2:p.Arg199Ser | |
| XM_005255827.2:c.511C>A | XP_005255884.1:p.Arg171Ser | |
| XM_005255828.3:c.187C>A | XP_005255885.1:p.Arg63Ser | |
| XM_005255829.2:c.166C>A | XP_005255886.1:p.Arg56Ser | |
| XM_005255827.4:c.511C>A | XP_005255884.1:p.Arg171Ser | |
| XM_005255829.4:c.166C>A | XP_005255886.1:p.Arg56Ser | |
| XM_017022990.2:c.268C>A | XP_016878479.1:p.Arg90Ser | |
| NM_001361.5:c.595C>A MANE Select | NP_001352.2:p.Arg199Ser |