Revel Score:
ENST00000155840 (MANE Select)
0.617
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445100T>A , CM000673.2:g.2445100T>A | GRCh38 |
| NC_000011.9:g.2466330T>A , CM000673.1:g.2466330T>A | GRCh37 |
| NC_000011.8:g.2422906T>A | NCBI36 |
| NG_008935.1:g.5110T>A , LRG_287:g.5110T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.24-283T>A | ENSP00000434560.2:n.24-283T>A | |
| ENST00000646564.2:c.2T>A | ENSP00000495806.2:p.Met1Lys | |
| ENST00000155840.12:c.2T>A MANE Select | ENSP00000155840.2:p.Met1Lys | |
| ENST00000155840.9:c.2T>A | ENSP00000155840.2:p.Met1Lys | |
| ENST00000496887.6:c.24-283T>A | ENSP00000434560.1:n.24-283T>A | |
| NM_000218.2:c.2T>A , LRG_287t1:c.2T>A | NP_000209.2:p.Met1Lys | |
| NM_000218.3:c.2T>A MANE Select | NP_000209.2:p.Met1Lys |