Revel Score:
ENST00000316623 (MANE Select)
0.884
ENST00000389087
0.884
ENST00000544030
0.884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48437872C>A , CM000677.2:g.48437872C>A | GRCh38 |
| NC_000015.9:g.48730069C>A , CM000677.1:g.48730069C>A | GRCh37 |
| NC_000015.8:g.46517361C>A | NCBI36 |
| NG_008805.2:g.212917G>T , LRG_778:g.212917G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6209G>T | ENSP00000453958.2:p.Cys2070Phe | |
| ENST00000674301.2:c.6209G>T | ENSP00000501333.2:p.Cys2070Phe | |
| ENST00000316623.10:c.6209G>T MANE Select | ENSP00000325527.5:p.Cys2070Phe | |
| ENST00000674301.1:c.1208G>T | ENSP00000501333.1:p.Cys403Phe | |
| ENST00000316623.9:c.6209G>T | ENSP00000325527.5:p.Cys2070Phe | |
| ENST00000537463.6:c.*1972G>T | ENSP00000440294.2:n.*1972G>T | |
| ENST00000559133.5:c.1516G>T | ||
| ENST00000560820.1:n.329G>T | ||
| NM_000138.4:c.6209G>T , LRG_778t1:c.6209G>T | NP_000129.3:p.Cys2070Phe | |
| NM_000138.5:c.6209G>T MANE Select | NP_000129.3:p.Cys2070Phe |