Revel Score:
ENST00000303143
0.551
ENST00000397799 (MANE Select)
0.551
ENST00000481785
0.551
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36098318G>T , CM000663.2:g.36098318G>T | GRCh38 |
| NC_000001.10:g.36563919G>T , CM000663.1:g.36563919G>T | GRCh37 |
| NC_000001.9:g.36336506G>T | NCBI36 |
| NG_016245.2:g.31767C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397799.2:c.1363C>A MANE Select | ENSP00000380901.1:p.Gln455Lys | |
| ENST00000303143.9:c.1363C>A | ENSP00000305913.4:p.Gln455Lys | |
| ENST00000397799.1:c.1363C>A | ENSP00000380901.1:p.Gln455Lys | |
| ENST00000481785.1:c.1168C>A | ENSP00000436433.1:p.Gln390Lys | |
| ENST00000615990.1:c.773-238C>A | ENSP00000484406.1:n.773-238C>A | |
| NM_001294347.1:c.1168C>A | NP_001281276.1:p.Gln390Lys | |
| NM_005202.3:c.1363C>A | NP_005193.1:p.Gln455Lys | |
| XM_005270477.2:c.1594C>A | XP_005270534.1:p.Gln532Lys | |
| XM_005270477.3:c.1594C>A | XP_005270534.1:p.Gln532Lys | |
| NM_005202.4:c.1363C>A MANE Select | NP_005193.1:p.Gln455Lys | |
| NM_001294347.2:c.1168C>A | NP_001281276.1:p.Gln390Lys |