Revel Score:
ENST00000378802 (MANE Select)
0.234
ENST00000274118
0.234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205236T>A , CM000666.2:g.186205236T>A | GRCh38 |
| NC_000004.11:g.187126390T>A , CM000666.1:g.187126390T>A | GRCh37 |
| NC_000004.10:g.187363384T>A | NCBI36 |
| NG_007965.1:g.18717T>A | |
| NG_012095.2:g.1258T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.1024T>A MANE Select | ENSP00000368079.4:p.Leu342Ile | |
| ENST00000378802.4:c.1024T>A | ENSP00000368079.4:p.Leu342Ile | |
| ENST00000502665.1:n.259T>A | ||
| ENST00000507209.5:n.5722T>A | ||
| ENST00000513354.5:n.114T>A | ||
| NM_207352.3:c.1024T>A | NP_997235.3:p.Leu342Ile | |
| XM_005262935.2:c.1024T>A | XP_005262992.1:p.Leu342Ile | |
| XM_006714184.2:c.628T>A | XP_006714247.1:p.Leu210Ile | |
| XM_005262935.4:c.1024T>A | XP_005262992.1:p.Leu342Ile | |
| XM_017008037.1:c.628T>A | XP_016863526.1:p.Leu210Ile | |
| NM_207352.4:c.1024T>A MANE Select | NP_997235.3:p.Leu342Ile |