Revel Score:
ENST00000305988 (MANE Select)
0.104
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148826910G>A , CM000667.2:g.148826910G>A | GRCh38 |
| NC_000005.9:g.148206473G>A , CM000667.1:g.148206473G>A | GRCh37 |
| NC_000005.8:g.148186666G>A | NCBI36 |
| NG_016421.2:g.5318G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.79G>A MANE Select | ENSP00000305372.4:p.Glu27Lys | |
| ENST00000305988.5:c.79G>A | ENSP00000305372.4:p.Glu27Lys | |
| NM_000024.6:c.79G>A MANE Select | NP_000015.2:p.Glu27Lys |