Revel Score:
ENST00000398411
0.381
ENST00000376925 (MANE Select)
0.381
ENST00000398409
0.381
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23635330A>T , CM000682.2:g.23635330A>T | GRCh38 |
| NC_000020.10:g.23615967A>T , CM000682.1:g.23615967A>T | GRCh37 |
| NC_000020.9:g.23563967A>T | NCBI36 |
| NG_012887.2:g.7608T>A | |
| NG_012887.3:g.7608T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376925.8:c.281T>A MANE Select | ENSP00000366124.3:p.Leu94Gln | |
| ENST00000376925.7:c.281T>A | ENSP00000366124.3:p.Leu94Gln | |
| ENST00000398409.1:c.281T>A | ENSP00000381446.1:p.Leu94Gln | |
| ENST00000398411.5:c.281T>A | ENSP00000381448.1:p.Leu94Gln | |
| NM_000099.3:c.281T>A | NP_000090.1:p.Leu94Gln | |
| NM_001288614.1:c.281T>A | NP_001275543.1:p.Leu94Gln | |
| NM_000099.4:c.281T>A MANE Select | NP_000090.1:p.Leu94Gln | |
| NM_001288614.2:c.281T>A | NP_001275543.1:p.Leu94Gln |