Revel Score:
ENST00000553106 (MANE Select)
0.783
ENST00000307000
0.783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846909C>T , CM000674.2:g.102846909C>T | GRCh38 |
| NC_000012.11:g.103240687C>T , CM000674.1:g.103240687C>T | GRCh37 |
| NC_000012.10:g.101764817C>T | NCBI36 |
| NG_008690.1:g.75694G>A | |
| NG_008690.2:g.116502G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.955G>A MANE Select | ENSP00000448059.1:p.Glu319Lys | |
| ENST00000307000.7:c.940G>A | ENSP00000303500.2:p.Glu314Lys | |
| ENST00000549247.6:n.714G>A | ||
| ENST00000551114.2:n.617G>A | ||
| ENST00000553106.5:c.955G>A | ENSP00000448059.1:p.Glu319Lys | |
| ENST00000635477.1:c.74-2478G>A | ||
| ENST00000635528.1:n.470G>A | ||
| NM_000277.1:c.955G>A | NP_000268.1:p.Glu319Lys | |
| XM_011538422.1:c.913-2478G>A | XP_011536724.1:n.913-2478G>A | |
| NM_000277.2:c.955G>A | NP_000268.1:p.Glu319Lys | |
| NM_001354304.1:c.955G>A | NP_001341233.1:p.Glu319Lys | |
| NM_000277.3:c.955G>A MANE Select | NP_000268.1:p.Glu319Lys | |
| NM_001354304.2:c.955G>A | NP_001341233.1:p.Glu319Lys |