Revel Score:
ENST00000373588 (MANE Select)
0.916
ENST00000373587
0.916
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124493083G>A , CM000671.2:g.124493083G>A | GRCh38 |
| NC_000009.11:g.127255362G>A , CM000671.1:g.127255362G>A | GRCh37 |
| NC_000009.10:g.126295183G>A | NCBI36 |
| NG_008176.1:g.19338C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.937C>T MANE Select | ENSP00000362690.4:p.Arg313Cys | |
| ENST00000373587.3:c.289C>T | ENSP00000362689.3:p.Arg97Cys | |
| ENST00000373588.8:c.937C>T | ENSP00000362690.4:p.Arg313Cys | |
| ENST00000620110.4:c.871-1855C>T | ENSP00000483309.1:n.871-1855C>T | |
| NM_004959.4:c.937C>T | NP_004950.2:p.Arg313Cys | |
| XM_005251871.2:c.937C>T | XP_005251928.1:p.Arg313Cys | |
| XM_005251872.3:c.676C>T | XP_005251929.1:p.Arg226Cys | |
| XM_011518455.1:c.937C>T | XP_011516757.1:p.Arg313Cys | |
| XM_011518456.1:c.870+7007C>T | XP_011516758.1:n.870+7007C>T | |
| NM_004959.5:c.937C>T MANE Select | NP_004950.2:p.Arg313Cys |