Revel Score:
ENST00000227665 (MANE Select)
0.375
ENST00000542499
0.375
ENST00000433069
0.375
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790940G>T , CM000673.2:g.116790940G>T | GRCh38 |
| NC_000011.9:g.116661656G>T , CM000673.1:g.116661656G>T | GRCh37 |
| NC_000011.8:g.116166866G>T | NCBI36 |
| NG_015894.1:g.6481C>A | |
| NG_015894.2:g.6481C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.289C>A MANE Select | ENSP00000227665.4:p.Gln97Lys | |
| ENST00000433069.2:c.289C>A | ENSP00000399701.2:p.Gln97Lys | |
| ENST00000673688.1:c.373C>A | ENSP00000501141.1:p.Gln125Lys | |
| ENST00000227665.8:c.289C>A | ENSP00000227665.4:p.Gln97Lys | |
| ENST00000433069.1:c.289C>A | ENSP00000399701.1:p.Gln97Lys | |
| ENST00000542499.5:c.289C>A | ENSP00000445002.1:p.Gln97Lys | |
| NM_001166598.1:c.289C>A | NP_001160070.1:p.Gln97Lys | |
| NM_052968.4:c.289C>A | NP_443200.2:p.Gln97Lys | |
| NM_001166598.2:c.289C>A | NP_001160070.1:p.Gln97Lys | |
| NM_001371904.1:c.289C>A MANE Select | NP_001358833.1:p.Gln97Lys | |
| NM_052968.5:c.289C>A | NP_443200.2:p.Gln97Lys |