Revel Score:
ENST00000155840 (MANE Select)
0.978
ENST00000335475
0.978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583462G>T , CM000673.2:g.2583462G>T | GRCh38 |
| NC_000011.9:g.2604692G>T , CM000673.1:g.2604692G>T | GRCh37 |
| NC_000011.8:g.2561268G>T | NCBI36 |
| NG_008935.1:g.143472G>T , LRG_287:g.143472G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.688G>T | ENSP00000434560.2:p.Asp230Tyr | |
| ENST00000646564.2:c.505G>T | ENSP00000495806.2:p.Asp169Tyr | |
| ENST00000155840.12:c.949G>T MANE Select | ENSP00000155840.2:p.Asp317Tyr | |
| ENST00000335475.6:c.568G>T | ENSP00000334497.5:p.Asp190Tyr | |
| ENST00000646564.1:c.151G>T | ENSP00000495806.1:p.Asp51Tyr | |
| ENST00000155840.9:c.949G>T | ENSP00000155840.2:p.Asp317Tyr | |
| ENST00000335475.5:c.568G>T | ENSP00000334497.5:p.Asp190Tyr | |
| NM_000218.2:c.949G>T , LRG_287t1:c.949G>T | NP_000209.2:p.Asp317Tyr | |
| NM_181798.1:c.568G>T , LRG_287t2:c.568G>T | NP_861463.1:p.Asp190Tyr | |
| NM_000218.3:c.949G>T MANE Select | NP_000209.2:p.Asp317Tyr |