Revel Score:
ENST00000548409
0.834
ENST00000551188
0.834
ENST00000252242 (MANE Select)
0.947
ENST00000456000
0.947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517702A>T , CM000674.2:g.52517702A>T | GRCh38 |
| NC_000012.11:g.52911486A>T , CM000674.1:g.52911486A>T | GRCh37 |
| NC_000012.10:g.51197753A>T | NCBI36 |
| NG_008297.1:g.7758T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.980T>A MANE Select | ENSP00000252242.4:p.Met327Lys | |
| ENST00000252242.8:c.980T>A | ENSP00000252242.4:p.Met327Lys | |
| ENST00000547890.5:n.109T>A | ||
| ENST00000548409.5:c.102T>A | ||
| ENST00000549511.5:n.187T>A | ||
| ENST00000551013.1:n.618T>A | ||
| ENST00000551188.5:c.423T>A | ||
| ENST00000552629.5:n.1078T>A | ||
| NM_000424.3:c.980T>A | NP_000415.2:p.Met327Lys | |
| NM_000424.4:c.980T>A MANE Select | NP_000415.2:p.Met327Lys |