Revel Score:
ENST00000350375 (MANE Select)
0.700
ENST00000344265
0.700
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87262203C>A , CM000665.2:g.87262203C>A | GRCh38 |
| NC_000003.11:g.87311353C>A , CM000665.1:g.87311353C>A | GRCh37 |
| NC_000003.10:g.87394043C>A | NCBI36 |
| NG_008225.2:g.19385G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.550G>T | ENSP00000342931.3:p.Ala184Ser | |
| ENST00000350375.7:c.472G>T MANE Select | ENSP00000263781.2:p.Ala158Ser | |
| ENST00000344265.7:c.550G>T | ENSP00000342931.3:p.Ala184Ser | |
| ENST00000350375.6:c.472G>T | ENSP00000263781.2:p.Ala158Ser | |
| ENST00000560656.1:c.439+2085G>T | ENSP00000452610.1:n.439+2085G>T | |
| ENST00000561167.5:c.247G>T | ENSP00000454072.1:p.Ala83Ser | |
| NM_000306.3:c.472G>T | NP_000297.1:p.Ala158Ser | |
| NM_001122757.2:c.550G>T | NP_001116229.1:p.Ala184Ser | |
| NM_000306.4:c.472G>T MANE Select | NP_000297.1:p.Ala158Ser | |
| NM_001122757.3:c.550G>T | NP_001116229.1:p.Ala184Ser |