Revel Score:
ENST00000421325
0.279
ENST00000389298
0.279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.86674321T>A , CM000677.2:g.86674321T>A | GRCh38 |
| NC_000015.9:g.87217552T>A , CM000677.1:g.87217552T>A | GRCh37 |
| NC_000015.8:g.85018556T>A | NCBI36 |
| NG_033836.1:g.537311T>A | |
| NG_033836.2:g.599514T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441037.7:c.3106T>A | ENSP00000413001.3:p.Cys1036Ser | |
| ENST00000614907.3:c.3043T>A MANE Select | ENSP00000490608.2:p.Cys1015Ser | |
| ENST00000681381.1:n.202T>A | ||
| ENST00000421325.3:c.2968T>A | ENSP00000397173.3:p.Cys990Ser | |
| ENST00000441037.6:c.2968T>A | ENSP00000413001.2:p.Cys990Ser | |
| NM_152336.2:c.2968T>A | NP_689549.2:p.Cys990Ser | |
| XM_011521226.1:c.3043T>A | XP_011519528.1:p.Cys1015Ser | |
| XM_011521227.1:c.3043T>A | XP_011519529.1:p.Cys1015Ser | |
| NM_152336.3:c.3106T>A | NP_689549.3:p.Cys1036Ser | |
| XM_011521226.3:c.3043T>A | XP_011519528.1:p.Cys1015Ser | |
| XM_011521227.3:c.3043T>A | XP_011519529.1:p.Cys1015Ser | |
| XM_017021918.2:c.3010T>A | XP_016877407.1:p.Cys1004Ser | |
| XM_017021919.2:c.2959T>A | XP_016877408.1:p.Cys987Ser | |
| NM_152336.4:c.3106T>A | NP_689549.3:p.Cys1036Ser | |
| NM_001386094.1:c.3043T>A MANE Select | NP_001373023.1:p.Cys1015Ser |