Revel Score:
ENST00000362061 (MANE Select)
0.828
ENST00000367338
0.828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201065943G>T , CM000663.2:g.201065943G>T | GRCh38 |
| NC_000001.10:g.201035071G>T , CM000663.1:g.201035071G>T | GRCh37 |
| NC_000001.9:g.199301694G>T | NCBI36 |
| NG_009816.1:g.51624C>A | |
| NG_009816.2:g.51624C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.2748C>A MANE Select | ENSP00000355192.3:p.His916Gln | |
| ENST00000679417.1:c.*1911C>A | ENSP00000506706.1:n.*1911C>A | |
| ENST00000680059.1:c.*266C>A | ENSP00000504944.1:n.*266C>A | |
| ENST00000681078.1:c.2748C>A | ENSP00000506645.1:p.His916Gln | |
| ENST00000681190.1:c.2748C>A | ENSP00000506428.1:p.His916Gln | |
| ENST00000681874.1:c.2688C>A | ENSP00000505162.1:p.His896Gln | |
| ENST00000362061.3:c.2748C>A | ENSP00000355192.3:p.His916Gln | |
| ENST00000367338.7:c.2748C>A | ENSP00000356307.3:p.His916Gln | |
| NM_000069.2:c.2748C>A | NP_000060.2:p.His916Gln | |
| XM_005245478.2:c.2748C>A | XP_005245535.1:p.His916Gln | |
| XM_005245478.3:c.2748C>A | XP_005245535.1:p.His916Gln | |
| NM_000069.3:c.2748C>A MANE Select | NP_000060.2:p.His916Gln |