Revel Score:
ENST00000155840 (MANE Select)
0.924
ENST00000335475
0.924
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583451T>G , CM000673.2:g.2583451T>G | GRCh38 |
| NC_000011.9:g.2604681T>G , CM000673.1:g.2604681T>G | GRCh37 |
| NC_000011.8:g.2561257T>G | NCBI36 |
| NG_008935.1:g.143461T>G , LRG_287:g.143461T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.677T>G | ENSP00000434560.2:p.Ile226Ser | |
| ENST00000646564.2:c.494T>G | ENSP00000495806.2:p.Ile165Ser | |
| ENST00000155840.12:c.938T>G MANE Select | ENSP00000155840.2:p.Ile313Ser | |
| ENST00000335475.6:c.557T>G | ENSP00000334497.5:p.Ile186Ser | |
| ENST00000646564.1:c.140T>G | ENSP00000495806.1:p.Ile47Ser | |
| ENST00000155840.9:c.938T>G | ENSP00000155840.2:p.Ile313Ser | |
| ENST00000335475.5:c.557T>G | ENSP00000334497.5:p.Ile186Ser | |
| NM_000218.2:c.938T>G , LRG_287t1:c.938T>G | NP_000209.2:p.Ile313Ser | |
| NM_181798.1:c.557T>G , LRG_287t2:c.557T>G | NP_861463.1:p.Ile186Ser | |
| NM_000218.3:c.938T>G MANE Select | NP_000209.2:p.Ile313Ser |