Revel Score:
ENST00000374498
0.940
ENST00000374497
0.940
ENST00000429356
0.940
ENST00000418277
0.940
ENST00000425913
0.940
ENST00000445705
0.940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798199C>T , CM000663.2:g.23798199C>T | GRCh38 |
| NC_000001.10:g.24124689C>T , CM000663.1:g.24124689C>T | GRCh37 |
| NC_000001.9:g.23997276C>T | NCBI36 |
| NG_007068.1:g.7606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.269G>A MANE Select | ENSP00000483375.1:p.Gly90Glu | |
| ENST00000374497.7:c.269G>A | ENSP00000363621.3:p.Gly90Glu | |
| ENST00000418277.5:c.77G>A | ENSP00000414719.1:p.Gly26Glu | |
| ENST00000425913.5:c.269G>A | ENSP00000393359.1:p.Gly90Glu | |
| ENST00000429356.5:c.77G>A | ENSP00000398585.1:p.Gly26Glu | |
| ENST00000445705.1:c.269G>A | ENSP00000398257.1:p.Gly90Glu | |
| ENST00000459934.5:n.387G>A | ||
| ENST00000467493.5:n.729G>A | ||
| ENST00000470949.5:n.214G>A | ||
| ENST00000481736.5:n.673G>A | ||
| ENST00000486382.1:n.370G>A | ||
| ENST00000617979.4:c.269G>A | ENSP00000483375.1:p.Gly90Glu | |
| NM_000403.3:c.269G>A | NP_000394.2:p.Gly90Glu | |
| NM_001008216.1:c.269G>A | NP_001008217.1:p.Gly90Glu | |
| NM_001127621.1:c.269G>A | NP_001121093.1:p.Gly90Glu | |
| NM_001008216.2:c.269G>A MANE Select | NP_001008217.1:p.Gly90Glu | |
| NM_000403.4:c.269G>A | NP_000394.2:p.Gly90Glu | |
| NM_001127621.2:c.269G>A | NP_001121093.1:p.Gly90Glu |