Revel Score:
ENST00000442011 (MANE Select)
0.777
ENST00000398813
0.777
ENST00000305126
0.777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056769C>A , CM000667.2:g.136056769C>A | GRCh38 |
| NC_000005.9:g.135392458C>A , CM000667.1:g.135392458C>A | GRCh37 |
| NC_000005.8:g.135420357C>A | NCBI36 |
| NG_012646.1:g.32875C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1652C>A MANE Select | ENSP00000416330.2:p.Pro551Gln | |
| ENST00000442011.6:c.1652C>A | ENSP00000416330.2:p.Pro551Gln | |
| ENST00000506699.5:n.2169C>A | ||
| ENST00000507018.5:c.1630C>A | ||
| ENST00000509485.5:c.649C>A | ||
| ENST00000514242.5:n.423C>A | ||
| ENST00000514554.5:c.804C>A | ||
| NM_000358.2:c.1652C>A | NP_000349.1:p.Pro551Gln | |
| NM_000358.3:c.1652C>A MANE Select | NP_000349.1:p.Pro551Gln |