Revel Score:
ENST00000295897 (MANE Select)
0.182
ENST00000415165
0.182
ENST00000329326
0.182
ENST00000503124
0.182
ENST00000509063
0.182
ENST00000401494
0.182
ENST00000430202
0.182
ENST00000511370
0.033
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73419634G>A , CM000666.2:g.73419634G>A | GRCh38 |
| NC_000004.11:g.74285351G>A , CM000666.1:g.74285351G>A | GRCh37 |
| NC_000004.10:g.74504215G>A | NCBI36 |
| NG_009291.1:g.20380G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1780G>A MANE Select | ENSP00000295897.4:p.Glu594Lys | |
| ENST00000295897.8:c.1780G>A | ENSP00000295897.4:p.Glu594Lys | |
| ENST00000401494.7:c.1435G>A | ENSP00000384695.3:p.Glu479Lys | |
| ENST00000415165.6:c.1204G>A | ENSP00000401820.2:p.Glu402Lys | |
| ENST00000476441.6:c.*1059G>A | ENSP00000423727.1:n.*1059G>A | |
| ENST00000495173.1:n.88G>A | ||
| ENST00000503124.5:c.1330G>A | ENSP00000421027.1:p.Glu444Lys | |
| ENST00000505649.5:n.1327G>A | ||
| ENST00000508932.5:n.175+179G>A | ||
| ENST00000509063.5:c.1780G>A | ENSP00000422784.1:p.Glu594Lys | |
| ENST00000511370.1:c.1313G>A | ||
| ENST00000621085.4:c.1141G>A | ENSP00000483421.1:p.Glu381Lys | |
| ENST00000621628.4:c.1141G>A | ENSP00000480485.1:p.Glu381Lys | |
| NM_000477.5:c.1780G>A | NP_000468.1:p.Glu594Lys | |
| NM_000477.6:c.1780G>A | NP_000468.1:p.Glu594Lys | |
| NM_000477.7:c.1780G>A MANE Select | NP_000468.1:p.Glu594Lys |