Revel Score:
ENST00000420975
0.124
ENST00000226413 (MANE Select)
0.455
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67744659G>C , CM000666.2:g.67744659G>C | GRCh38 |
| NC_000004.11:g.68610377G>C , CM000666.1:g.68610377G>C | GRCh37 |
| NC_000004.10:g.68292972G>C | NCBI36 |
| NG_009293.1:g.16428C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.651C>G MANE Select | ENSP00000226413.5:p.Ser217Arg | |
| ENST00000226413.4:c.651C>G | ENSP00000226413.4:p.Ser217Arg | |
| ENST00000420975.2:c.523C>G | ENSP00000397561.2:p.Leu175Val | |
| NM_000406.2:c.651C>G | NP_000397.1:p.Ser217Arg | |
| NM_001012763.1:c.523C>G | NP_001012781.1:p.Leu175Val | |
| NM_000406.3:c.651C>G MANE Select | NP_000397.1:p.Ser217Arg | |
| NM_001012763.2:c.523C>G | NP_001012781.1:p.Leu175Val |