Revel Score:
ENST00000371410 (MANE Select)
0.626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119930019C>A , CM000685.2:g.119930019C>A | GRCh38 |
| NC_000023.10:g.119063982C>A , CM000685.1:g.119063982C>A | GRCh37 |
| NC_000023.9:g.118948010C>A | NCBI36 |
| NG_021260.1:g.18754G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371410.5:c.1070G>T MANE Select | ENSP00000360464.3:p.Ser357Ile | |
| ENST00000652253.1:c.1066G>T | ||
| ENST00000371410.4:c.1070G>T | ENSP00000360464.3:p.Ser357Ile | |
| ENST00000477789.5:n.1998G>T | ||
| NM_024528.3:c.1070G>T | NP_078804.2:p.Ser357Ile | |
| XM_017029842.1:c.773G>T | XP_016885331.1:p.Ser258Ile | |
| NM_024528.4:c.1070G>T MANE Select | NP_078804.2:p.Ser357Ile |