Revel Score:
ENST00000350375 (MANE Select)
0.916
ENST00000344265
0.916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87262138G>T , CM000665.2:g.87262138G>T | GRCh38 |
| NC_000003.11:g.87311288G>T , CM000665.1:g.87311288G>T | GRCh37 |
| NC_000003.10:g.87393978G>T | NCBI36 |
| NG_008225.2:g.19450C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.615C>A | ENSP00000342931.3:p.Ser205Arg | |
| ENST00000350375.7:c.537C>A MANE Select | ENSP00000263781.2:p.Ser179Arg | |
| ENST00000344265.7:c.615C>A | ENSP00000342931.3:p.Ser205Arg | |
| ENST00000350375.6:c.537C>A | ENSP00000263781.2:p.Ser179Arg | |
| ENST00000560656.1:c.440-2034C>A | ENSP00000452610.1:n.440-2034C>A | |
| ENST00000561167.5:c.312C>A | ENSP00000454072.1:p.Ser104Arg | |
| NM_000306.3:c.537C>A | NP_000297.1:p.Ser179Arg | |
| NM_001122757.2:c.615C>A | NP_001116229.1:p.Ser205Arg | |
| NM_000306.4:c.537C>A MANE Select | NP_000297.1:p.Ser179Arg | |
| NM_001122757.3:c.615C>A | NP_001116229.1:p.Ser205Arg |