Revel Score:
ENST00000526117
0.946
ENST00000373474 (MANE Select)
0.946
ENST00000355497
0.946
ENST00000425646
0.946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126690862G>A , CM000671.2:g.126690862G>A | GRCh38 |
| NC_000009.11:g.129453141G>A , CM000671.1:g.129453141G>A | GRCh37 |
| NC_000009.10:g.128492962G>A | NCBI36 |
| NG_017039.1:g.81420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.353G>A | ENSP00000347684.5:p.Cys118Tyr | |
| ENST00000373474.9:c.353G>A MANE Select | ENSP00000362573.3:p.Cys118Tyr | |
| ENST00000526117.6:c.353G>A | ENSP00000436930.1:p.Cys118Tyr | |
| ENST00000355497.9:c.353G>A | ENSP00000347684.5:p.Cys118Tyr | |
| ENST00000373474.8:c.353G>A | ENSP00000362573.3:p.Cys118Tyr | |
| ENST00000526117.5:c.353G>A | ENSP00000436930.1:p.Cys118Tyr | |
| ENST00000561065.1:c.284G>A | ENSP00000453580.1:p.Cys95Tyr | |
| NM_001174146.1:c.353G>A | NP_001167617.1:p.Cys118Tyr | |
| NM_001174147.1:c.353G>A | NP_001167618.1:p.Cys118Tyr | |
| NM_002316.3:c.353G>A | NP_002307.2:p.Cys118Tyr | |
| NM_001174146.2:c.353G>A | NP_001167617.1:p.Cys118Tyr | |
| NM_001174147.2:c.353G>A MANE Select | NP_001167618.1:p.Cys118Tyr | |
| NM_002316.4:c.353G>A | NP_002307.2:p.Cys118Tyr |