Revel Score:
ENST00000298296 (MANE Select)
0.030
ENST00000448920
0.030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895344T>A , CM000685.2:g.141895344T>A | GRCh38 |
| NC_000023.10:g.140983130T>A , CM000685.1:g.140983130T>A | GRCh37 |
| NC_000023.9:g.140810796T>A | NCBI36 |
| NG_013272.1:g.62029T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.985T>A MANE Select | ENSP00000298296.1:p.Phe329Ile | |
| ENST00000443323.2:c.-118-1087T>A | ENSP00000438254.1:n.-118-1087T>A | |
| ENST00000483584.5:n.225T>A | ||
| ENST00000544766.5:c.-303T>A | ENSP00000440444.1:n.-303T>A | |
| NM_138702.1:c.985T>A MANE Select | NP_619647.1:p.Phe329Ile | |
| NM_177456.2:c.-303T>A | NP_803251.1:n.-303T>A | |
| XM_011531267.1:c.-226T>A | XP_011529569.1:n.-226T>A | |
| XM_011531267.3:c.-226T>A | XP_011529569.1:n.-226T>A | |
| XM_017029265.2:c.-303T>A | XP_016884754.1:n.-303T>A |