Revel Score:
ENST00000506491
0.735
ENST00000508657
0.735
ENST00000309755 (MANE Select)
0.735
ENST00000505853
0.735
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639916A>C , CM000667.2:g.137639916A>C | GRCh38 |
| NC_000005.9:g.136975605A>C , CM000667.1:g.136975605A>C | GRCh37 |
| NC_000005.8:g.137003504A>C | NCBI36 |
| NG_032569.1:g.101175T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.965T>G MANE Select | ENSP00000312397.4:p.Phe322Cys | |
| ENST00000309755.8:c.965T>G | ENSP00000312397.4:p.Phe322Cys | |
| ENST00000502381.1:n.552T>G | ||
| ENST00000504208.5:c.*335-11479T>G | ENSP00000423585.1:n.*335-11479T>G | |
| ENST00000505853.1:c.845T>G | ENSP00000426173.1:p.Phe282Cys | |
| ENST00000506491.5:c.719T>G | ENSP00000424828.1:p.Phe240Cys | |
| ENST00000506873.5:n.590T>G | ||
| ENST00000508657.5:c.869T>G | ENSP00000422099.1:p.Phe290Cys | |
| NM_001257194.1:c.869T>G | NP_001244123.1:p.Phe290Cys | |
| NM_001257195.1:c.719T>G | NP_001244124.1:p.Phe240Cys | |
| NM_017415.2:c.965T>G | NP_059111.2:p.Phe322Cys | |
| NM_017415.3:c.965T>G MANE Select | NP_059111.2:p.Phe322Cys | |
| NM_001257195.2:c.719T>G | NP_001244124.1:p.Phe240Cys |