Revel Score:
ENST00000254854 (MANE Select)
0.802
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8014704C>A , CM000679.2:g.8014704C>A | GRCh38 |
| NC_000017.10:g.7918022C>A , CM000679.1:g.7918022C>A | GRCh37 |
| NC_000017.9:g.7858747C>A | NCBI36 |
| NG_009092.1:g.17035C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2516C>A MANE Select | ENSP00000254854.4:p.Thr839Lys | |
| ENST00000254854.4:c.2516C>A | ENSP00000254854.4:p.Thr839Lys | |
| NM_000180.3:c.2516C>A | NP_000171.1:p.Thr839Lys | |
| XM_011523816.1:c.2516C>A | XP_011522118.1:p.Thr839Lys | |
| NM_000180.4:c.2516C>A MANE Select | NP_000171.1:p.Thr839Lys |