Revel Score:
ENST00000228841 (MANE Select)
0.844
ENST00000548438
0.844
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110919144A>G , CM000674.2:g.110919144A>G | GRCh38 |
| NC_000012.11:g.111356948A>G , CM000674.1:g.111356948A>G | GRCh37 |
| NC_000012.10:g.109841331A>G | NCBI36 |
| NG_007554.1:g.6434T>C , LRG_393:g.6434T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.53T>C MANE Select | ENSP00000228841.8:p.Phe18Ser | |
| ENST00000663220.1:c.-5T>C | ENSP00000499568.1:n.-5T>C | |
| ENST00000228841.12:c.53T>C | ENSP00000228841.7:p.Phe18Ser | |
| ENST00000546404.1:n.246T>C | ||
| ENST00000548438.1:c.53T>C | ENSP00000447154.1:p.Phe18Ser | |
| NM_000432.3:c.53T>C , LRG_393t1:c.53T>C | NP_000423.2:p.Phe18Ser | |
| NM_000432.4:c.53T>C MANE Select | NP_000423.2:p.Phe18Ser |