Revel Score:
ENST00000520113 (MANE Select)
0.811
ENST00000369538
0.811
ENST00000353928
0.811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677984C>G , CM000663.2:g.114677984C>G | GRCh38 |
| NC_000001.10:g.115220605C>G , CM000663.1:g.115220605C>G | GRCh37 |
| NC_000001.9:g.115022128C>G | NCBI36 |
| NG_008012.1:g.22572G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1138G>C | ENSP00000358551.4:p.Ala380Pro | |
| ENST00000520113.7:c.1150G>C MANE Select | ENSP00000430075.3:p.Ala384Pro | |
| ENST00000637080.1:c.933G>C | ENSP00000489753.1:n.933G>C | |
| ENST00000639077.1:n.815G>C | ||
| ENST00000369538.3:c.1237G>C | ENSP00000358551.3:p.Ala413Pro | |
| ENST00000520113.6:c.1249G>C | ENSP00000430075.2:p.Ala417Pro | |
| NM_000036.2:c.1249G>C | NP_000027.2:p.Ala417Pro | |
| NM_001172626.1:c.1237G>C | NP_001166097.1:p.Ala413Pro | |
| NM_000036.3:c.1150G>C MANE Select | NP_000027.3:p.Ala384Pro | |
| NM_001172626.2:c.1138G>C | NP_001166097.2:p.Ala380Pro |