Revel Score:
ENST00000282146 (MANE Select)
0.493
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90184405G>A , CM000676.2:g.90184405G>A | GRCh38 |
| NC_000014.8:g.90650749G>A , CM000676.1:g.90650749G>A | GRCh37 |
| NC_000014.7:g.89720502G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282146.5:c.629G>A MANE Select | ENSP00000282146.4:p.Cys210Tyr | |
| ENST00000282146.4:c.629G>A | ENSP00000282146.4:p.Cys210Tyr | |
| NM_022054.3:c.629G>A | NP_071337.2:p.Cys210Tyr | |
| NM_022054.4:c.629G>A MANE Select | NP_071337.2:p.Cys210Tyr |