Revel Score:
ENST00000316623 (MANE Select)
0.620
ENST00000389087
0.620
ENST00000544030
0.620
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48446751G>A , CM000677.2:g.48446751G>A | GRCh38 |
| NC_000015.9:g.48738948G>A , CM000677.1:g.48738948G>A | GRCh37 |
| NC_000015.8:g.46526240G>A | NCBI36 |
| NG_008805.2:g.204038C>T , LRG_778:g.204038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5743C>T | ENSP00000453958.2:p.Arg1915Cys | |
| ENST00000674301.2:c.5743C>T | ENSP00000501333.2:p.Arg1915Cys | |
| ENST00000684448.1:n.4417C>T | ||
| ENST00000316623.10:c.5743C>T MANE Select | ENSP00000325527.5:p.Arg1915Cys | |
| ENST00000674301.1:c.742C>T | ENSP00000501333.1:p.Arg248Cys | |
| ENST00000316623.9:c.5743C>T | ENSP00000325527.5:p.Arg1915Cys | |
| ENST00000537463.6:c.*1506C>T | ENSP00000440294.2:n.*1506C>T | |
| ENST00000559133.5:c.1050C>T | ||
| NM_000138.4:c.5743C>T , LRG_778t1:c.5743C>T | NP_000129.3:p.Arg1915Cys | |
| NM_000138.5:c.5743C>T MANE Select | NP_000129.3:p.Arg1915Cys |