Revel Score:
ENST00000293549 (MANE Select)
0.754
ENST00000380414
0.754
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48980630G>A , CM000674.2:g.48980630G>A | GRCh38 |
| NC_000012.11:g.49374413G>A , CM000674.1:g.49374413G>A | GRCh37 |
| NC_000012.10:g.47660680G>A | NCBI36 |
| NG_033141.1:g.7178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.565G>A MANE Select | ENSP00000293549.3:p.Glu189Lys | |
| ENST00000293549.3:c.565G>A | ENSP00000293549.3:p.Glu189Lys | |
| ENST00000613114.4:c.565G>A | ENSP00000481240.1:p.Glu189Lys | |
| NM_005430.3:c.565G>A | NP_005421.1:p.Glu189Lys | |
| NM_005430.4:c.565G>A MANE Select | NP_005421.1:p.Glu189Lys |