Revel Score:
ENST00000520113 (MANE Select)
0.882
ENST00000369538
0.882
ENST00000353928
0.882
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677914A>T , CM000663.2:g.114677914A>T | GRCh38 |
| NC_000001.10:g.115220535A>T , CM000663.1:g.115220535A>T | GRCh37 |
| NC_000001.9:g.115022058A>T | NCBI36 |
| NG_008012.1:g.22642T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1208T>A | ENSP00000358551.4:p.Ile403Asn | |
| ENST00000520113.7:c.1220T>A MANE Select | ENSP00000430075.3:p.Ile407Asn | |
| ENST00000637080.1:c.1003T>A | ENSP00000489753.1:n.1003T>A | |
| ENST00000639077.1:n.885T>A | ||
| ENST00000369538.3:c.1307T>A | ENSP00000358551.3:p.Ile436Asn | |
| ENST00000520113.6:c.1319T>A | ENSP00000430075.2:p.Ile440Asn | |
| NM_000036.2:c.1319T>A | NP_000027.2:p.Ile440Asn | |
| NM_001172626.1:c.1307T>A | NP_001166097.1:p.Ile436Asn | |
| NM_000036.3:c.1220T>A MANE Select | NP_000027.3:p.Ile407Asn | |
| NM_001172626.2:c.1208T>A | NP_001166097.2:p.Ile403Asn |