Revel Score:
ENST00000393038 (MANE Select)
0.808
ENST00000409433
0.808
ENST00000537860
0.808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59697725T>G , CM000679.2:g.59697725T>G | GRCh38 |
| NC_000017.10:g.57775086T>G , CM000679.1:g.57775086T>G | GRCh37 |
| NC_000017.9:g.55129868T>G | NCBI36 |
| NG_042064.1:g.14874A>C | |
| NG_047043.1:g.83037T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393038.3:c.254A>C MANE Select | ENSP00000376758.2:p.Gln85Pro | |
| ENST00000393038.2:c.254A>C | ENSP00000376758.2:p.Gln85Pro | |
| ENST00000409433.2:c.257A>C | ENSP00000387180.2:p.Gln86Pro | |
| ENST00000470557.2:c.254A>C | ENSP00000464327.1:p.Gln85Pro | |
| ENST00000587935.1:n.45+9646A>C | ||
| NM_001015509.2:c.257A>C | NP_001015509.1:p.Gln86Pro | |
| NM_016077.3:c.254A>C | NP_057161.1:p.Gln85Pro | |
| NM_016077.4:c.254A>C | NP_057161.1:p.Gln85Pro | |
| XM_011524887.1:c.254A>C | XP_011523189.1:p.Gln85Pro | |
| XM_011524887.2:c.254A>C | XP_011523189.1:p.Gln85Pro | |
| NM_016077.5:c.254A>C MANE Select | NP_057161.1:p.Gln85Pro | |
| NM_001015509.3:c.257A>C | NP_001015509.1:p.Gln86Pro |