Revel Score:
ENST00000361445 (MANE Select)
0.951
ENST00000376838
0.951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11129789A>C , CM000663.2:g.11129789A>C | GRCh38 |
| NC_000001.10:g.11189846A>C , CM000663.1:g.11189846A>C | GRCh37 |
| NC_000001.9:g.11112433A>C | NCBI36 |
| NG_033239.1:g.137763T>G , LRG_734:g.137763T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*1038T>G | ENSP00000515181.1:n.*1038T>G | |
| ENST00000703131.1:n.1467T>G | ||
| ENST00000703139.1:c.300T>G | ||
| ENST00000703140.1:c.5450T>G | ENSP00000515197.1:p.Phe1817Cys | |
| ENST00000703141.1:c.*983T>G | ENSP00000515198.1:n.*983T>G | |
| ENST00000703142.1:c.*2493T>G | ENSP00000515199.1:n.*2493T>G | |
| ENST00000361445.9:c.5663T>G MANE Select | ENSP00000354558.4:p.Phe1888Cys | |
| ENST00000361445.8:c.5663T>G | ENSP00000354558.4:p.Phe1888Cys | |
| ENST00000376838.5:c.278T>G | ENSP00000366034.1:p.Phe93Cys | |
| NM_004958.3:c.5663T>G , LRG_734t1:c.5663T>G | NP_004949.1:p.Phe1888Cys | |
| XM_005263438.1:c.5663T>G | XP_005263495.1:p.Phe1888Cys | |
| XR_244786.1:n.5784T>G | ||
| XM_005263438.2:c.5663T>G | XP_005263495.1:p.Phe1888Cys | |
| XM_017000900.1:c.4982T>G | XP_016856389.1:p.Phe1661Cys | |
| XM_017000901.1:c.4415T>G | XP_016856390.1:p.Phe1472Cys | |
| XM_024446187.1:c.5663T>G | XP_024301955.1:p.Phe1888Cys | |
| XR_001737087.1:n.5784T>G | ||
| NM_004958.4:c.5663T>G MANE Select | NP_004949.1:p.Phe1888Cys | |
| NM_001386500.1:c.5663T>G | NP_001373429.1:p.Phe1888Cys | |
| NM_001386501.1:c.4415T>G | NP_001373430.1:p.Phe1472Cys |