Revel Score:
ENST00000320868 (MANE Select)
0.872
ENST00000397797
0.872
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177120C>A , CM000678.2:g.177120C>A | GRCh38 |
| NC_000016.9:g.227119C>A , CM000678.1:g.227119C>A | GRCh37 |
| NC_000016.8:g.167119C>A | NCBI36 |
| NG_000006.1:g.37983C>A | |
| NG_059186.1:g.5470C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.287C>A MANE Select | ENSP00000322421.5:p.Pro96Gln | |
| ENST00000397797.1:c.191C>A | ENSP00000380899.1:p.Pro64Gln | |
| ENST00000472694.1:n.423C>A | ||
| ENST00000487791.1:n.256C>A | ||
| NM_000558.4:c.287C>A | NP_000549.1:p.Pro96Gln | |
| NM_000558.5:c.287C>A MANE Select | NP_000549.1:p.Pro96Gln |