Revel Score:
ENST00000520113 (MANE Select)
0.749
ENST00000369538
0.749
ENST00000353928
0.749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677983G>A , CM000663.2:g.114677983G>A | GRCh38 |
| NC_000001.10:g.115220604G>A , CM000663.1:g.115220604G>A | GRCh37 |
| NC_000001.9:g.115022127G>A | NCBI36 |
| NG_008012.1:g.22573C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1139C>T | ENSP00000358551.4:p.Ala380Val | |
| ENST00000520113.7:c.1151C>T MANE Select | ENSP00000430075.3:p.Ala384Val | |
| ENST00000637080.1:c.934C>T | ENSP00000489753.1:n.934C>T | |
| ENST00000639077.1:n.816C>T | ||
| ENST00000369538.3:c.1238C>T | ENSP00000358551.3:p.Ala413Val | |
| ENST00000520113.6:c.1250C>T | ENSP00000430075.2:p.Ala417Val | |
| NM_000036.2:c.1250C>T | NP_000027.2:p.Ala417Val | |
| NM_001172626.1:c.1238C>T | NP_001166097.1:p.Ala413Val | |
| NM_000036.3:c.1151C>T MANE Select | NP_000027.3:p.Ala384Val | |
| NM_001172626.2:c.1139C>T | NP_001166097.2:p.Ala380Val |