Revel Score:
ENST00000226413 (MANE Select)
0.489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67744661T>G , CM000666.2:g.67744661T>G | GRCh38 |
| NC_000004.11:g.68610379T>G , CM000666.1:g.68610379T>G | GRCh37 |
| NC_000004.10:g.68292974T>G | NCBI36 |
| NG_009293.1:g.16426A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.649A>C MANE Select | ENSP00000226413.5:p.Ser217Arg | |
| ENST00000226413.4:c.649A>C | ENSP00000226413.4:p.Ser217Arg | |
| ENST00000420975.2:c.523-2A>C | ENSP00000397561.2:n.523-2A>C | |
| NM_000406.2:c.649A>C | NP_000397.1:p.Ser217Arg | |
| NM_001012763.1:c.523-2A>C | NP_001012781.1:n.523-2A>C | |
| NM_000406.3:c.649A>C MANE Select | NP_000397.1:p.Ser217Arg | |
| NM_001012763.2:c.523-2A>C | NP_001012781.1:n.523-2A>C |