Revel Score:
ENST00000547072
0.943
ENST00000257895 (MANE Select)
0.943
ENST00000548082
0.943
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55724429T>G , CM000674.2:g.55724429T>G | GRCh38 |
| NC_000012.11:g.56118213T>G , CM000674.1:g.56118213T>G | GRCh37 |
| NC_000012.10:g.54404480T>G | NCBI36 |
| NG_008347.1:g.9698A>C | |
| NG_008606.1:g.9063T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.841T>G MANE Select | ENSP00000257895.6:p.Tyr281Asp | |
| ENST00000257895.9:c.841T>G | ENSP00000257895.5:p.Tyr281Asp | |
| ENST00000257899.3:c.592-109T>G | ||
| ENST00000547072.5:c.550T>G | ENSP00000449927.1:p.Tyr184Asp | |
| ENST00000548082.1:c.841T>G | ENSP00000447128.1:p.Tyr281Asp | |
| ENST00000548123.1:c.572T>G | ||
| ENST00000550412.5:c.*2723T>G | ENSP00000447650.1:n.*2723T>G | |
| ENST00000551444.1:n.791T>G | ||
| NM_001199771.1:c.841T>G | NP_001186700.1:p.Tyr281Asp | |
| NM_002905.3:c.841T>G | NP_002896.2:p.Tyr281Asp | |
| NR_037658.1:n.900T>G | ||
| NM_001199771.2:c.841T>G | NP_001186700.1:p.Tyr281Asp | |
| NM_002905.5:c.841T>G MANE Select | NP_002896.2:p.Tyr281Asp | |
| NM_001199771.3:c.841T>G | NP_001186700.1:p.Tyr281Asp |