Revel Score:
ENST00000520113 (MANE Select)
0.649
ENST00000369538
0.649
ENST00000353928
0.649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677990C>G , CM000663.2:g.114677990C>G | GRCh38 |
| NC_000001.10:g.115220611C>G , CM000663.1:g.115220611C>G | GRCh37 |
| NC_000001.9:g.115022134C>G | NCBI36 |
| NG_008012.1:g.22566G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1132G>C | ENSP00000358551.4:p.Val378Leu | |
| ENST00000520113.7:c.1144G>C MANE Select | ENSP00000430075.3:p.Val382Leu | |
| ENST00000637080.1:c.927G>C | ENSP00000489753.1:n.927G>C | |
| ENST00000639077.1:n.809G>C | ||
| ENST00000369538.3:c.1231G>C | ENSP00000358551.3:p.Val411Leu | |
| ENST00000520113.6:c.1243G>C | ENSP00000430075.2:p.Val415Leu | |
| NM_000036.2:c.1243G>C | NP_000027.2:p.Val415Leu | |
| NM_001172626.1:c.1231G>C | NP_001166097.1:p.Val411Leu | |
| NM_000036.3:c.1144G>C MANE Select | NP_000027.3:p.Val382Leu | |
| NM_001172626.2:c.1132G>C | NP_001166097.2:p.Val378Leu |