Revel Score:
ENST00000441843
0.942
ENST00000325686 (MANE Select)
0.942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.43883879T>C , CM000675.2:g.43883879T>C | GRCh38 |
| NC_000013.10:g.44458015T>C , CM000675.1:g.44458015T>C | GRCh37 |
| NC_000013.9:g.43356015T>C | NCBI36 |
| NG_053160.1:g.10046T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325686.7:c.850T>C MANE Select | ENSP00000317619.5:p.Cys284Arg | |
| ENST00000325686.6:c.850T>C | ENSP00000317619.5:p.Cys284Arg | |
| ENST00000441843.5:c.850T>C | ENSP00000391747.1:p.Cys284Arg | |
| ENST00000627615.1:c.80T>C | ||
| NM_001128303.1:c.850T>C | NP_001121775.1:p.Cys284Arg | |
| NM_153218.2:c.850T>C | NP_694950.2:p.Cys284Arg | |
| XM_005266261.2:c.850T>C | XP_005266318.1:p.Cys284Arg | |
| XM_006719766.2:c.850T>C | XP_006719829.1:p.Cys284Arg | |
| XM_006719767.2:c.850T>C | XP_006719830.1:p.Cys284Arg | |
| XM_011534933.1:c.850T>C | XP_011533235.1:p.Cys284Arg | |
| XM_011534934.1:c.850T>C | XP_011533236.1:p.Cys284Arg | |
| XM_011534935.1:c.850T>C | XP_011533237.1:p.Cys284Arg | |
| NM_001128303.2:c.850T>C | NP_001121775.1:p.Cys284Arg | |
| NM_001350638.1:c.850T>C | NP_001337567.1:p.Cys284Arg | |
| NM_001350639.1:c.850T>C | NP_001337568.1:p.Cys284Arg | |
| NM_001350640.1:c.850T>C | NP_001337569.1:p.Cys284Arg | |
| NM_001350641.1:c.850T>C | NP_001337570.1:p.Cys284Arg | |
| NM_001350642.1:c.850T>C | NP_001337571.1:p.Cys284Arg | |
| NM_001350643.1:c.850T>C | NP_001337572.1:p.Cys284Arg | |
| NM_001350644.1:c.82T>C | NP_001337573.1:p.Cys28Arg | |
| NM_001350645.1:c.82T>C | NP_001337574.1:p.Cys28Arg | |
| NM_001350646.1:c.82T>C | NP_001337575.1:p.Cys28Arg | |
| NM_001350647.1:c.82T>C | NP_001337576.1:p.Cys28Arg | |
| NM_001350648.1:c.82T>C | NP_001337577.1:p.Cys28Arg | |
| NM_153218.3:c.850T>C | NP_694950.2:p.Cys284Arg | |
| XM_006719766.3:c.850T>C | XP_006719829.1:p.Cys284Arg | |
| XM_011534935.3:c.850T>C | XP_011533237.1:p.Cys284Arg | |
| XM_024449319.1:c.850T>C | XP_024305087.1:p.Cys284Arg | |
| XM_024449320.1:c.82T>C | XP_024305088.1:p.Cys28Arg | |
| XM_024449321.1:c.82T>C | XP_024305089.1:p.Cys28Arg | |
| NM_153218.4:c.850T>C MANE Select | NP_694950.2:p.Cys284Arg | |
| NM_001350638.2:c.850T>C | NP_001337567.1:p.Cys284Arg | |
| NM_001350639.2:c.850T>C | NP_001337568.1:p.Cys284Arg | |
| NM_001350640.2:c.850T>C | NP_001337569.1:p.Cys284Arg | |
| NM_001350641.2:c.850T>C | NP_001337570.1:p.Cys284Arg | |
| NM_001350642.2:c.850T>C | NP_001337571.1:p.Cys284Arg | |
| NM_001350643.2:c.850T>C | NP_001337572.1:p.Cys284Arg | |
| NM_001350644.2:c.82T>C | NP_001337573.1:p.Cys28Arg | |
| NM_001350645.2:c.82T>C | NP_001337574.1:p.Cys28Arg | |
| NM_001350646.2:c.82T>C | NP_001337575.1:p.Cys28Arg | |
| NM_001350647.2:c.82T>C | NP_001337576.1:p.Cys28Arg | |
| NM_001350648.2:c.82T>C | NP_001337577.1:p.Cys28Arg |