Revel Score:
ENST00000262367 (MANE Select)
0.968
ENST00000543883
0.968
ENST00000382070
0.968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3793502C>A , CM000678.2:g.3793502C>A | GRCh38 |
| NC_000016.9:g.3843503C>A , CM000678.1:g.3843503C>A | GRCh37 |
| NC_000016.8:g.3783504C>A | NCBI36 |
| NG_009873.1:g.91619G>T | |
| NG_009873.2:g.92212G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.1100G>T MANE Select | ENSP00000262367.5:p.Cys367Phe | |
| ENST00000262367.9:c.1100G>T | ENSP00000262367.5:p.Cys367Phe | |
| ENST00000382070.7:c.1100G>T | ENSP00000371502.3:p.Cys367Phe | |
| NM_001079846.1:c.1100G>T | NP_001073315.1:p.Cys367Phe | |
| NM_004380.2:c.1100G>T | NP_004371.2:p.Cys367Phe | |
| XM_005255124.3:c.1100G>T | XP_005255181.1:p.Cys367Phe | |
| XM_005255125.3:c.1100G>T | XP_005255182.1:p.Cys367Phe | |
| XM_006720848.2:c.1100G>T | XP_006720911.1:p.Cys367Phe | |
| XM_011522380.1:c.1046G>T | XP_011520682.1:p.Cys349Phe | |
| XM_011522381.1:c.347G>T | XP_011520683.1:p.Cys116Phe | |
| XM_011522382.1:c.1100G>T | XP_011520684.1:p.Cys367Phe | |
| XM_005255124.4:c.1100G>T | XP_005255181.1:p.Cys367Phe | |
| XM_005255125.4:c.1100G>T | XP_005255182.1:p.Cys367Phe | |
| XM_006720848.3:c.1100G>T | XP_006720911.1:p.Cys367Phe | |
| XM_011522381.2:c.347G>T | XP_011520683.1:p.Cys116Phe | |
| XM_011522382.3:c.1100G>T | XP_011520684.1:p.Cys367Phe | |
| XM_017022944.1:c.1100G>T | XP_016878433.1:p.Cys367Phe | |
| NM_004380.3:c.1100G>T MANE Select | NP_004371.2:p.Cys367Phe |