Revel Score:
ENST00000343849 (MANE Select)
0.692
ENST00000397368
0.692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745537A>C , CM000665.2:g.8745537A>C | GRCh38 |
| NC_000003.11:g.8787223A>C , CM000665.1:g.8787223A>C | GRCh37 |
| NC_000003.10:g.8762223A>C | NCBI36 |
| NG_008797.2:g.16728A>C , LRG_329:g.16728A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.126A>C MANE Select | ENSP00000341940.2:p.Glu42Asp | |
| ENST00000343849.2:c.126A>C | ENSP00000341940.2:p.Glu42Asp | |
| ENST00000397368.2:c.126A>C | ENSP00000380525.2:p.Glu42Asp | |
| ENST00000472766.1:n.155+11547A>C | ||
| NM_001234.4:c.126A>C | NP_001225.1:p.Glu42Asp | |
| NM_033337.2:c.126A>C , LRG_329t1:c.126A>C | NP_203123.1:p.Glu42Asp | |
| NM_001234.5:c.126A>C | NP_001225.1:p.Glu42Asp | |
| NM_033337.3:c.126A>C MANE Select | NP_203123.1:p.Glu42Asp |