Revel Score:
ENST00000228841 (MANE Select)
0.944
ENST00000550439
0.944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110915759C>G , CM000674.2:g.110915759C>G | GRCh38 |
| NC_000012.11:g.111353563C>G , CM000674.1:g.111353563C>G | GRCh37 |
| NC_000012.10:g.109837946C>G | NCBI36 |
| NG_007554.1:g.9819G>C , LRG_393:g.9819G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.125G>C MANE Select | ENSP00000228841.8:p.Gly42Ala | |
| ENST00000663220.1:c.68G>C | ENSP00000499568.1:p.Gly23Ala | |
| ENST00000228841.12:c.125G>C | ENSP00000228841.7:p.Gly42Ala | |
| ENST00000548438.1:c.94-1435G>C | ENSP00000447154.1:n.94-1435G>C | |
| NM_000432.3:c.125G>C , LRG_393t1:c.125G>C | NP_000423.2:p.Gly42Ala | |
| NM_000432.4:c.125G>C MANE Select | NP_000423.2:p.Gly42Ala |