Revel Score:
ENST00000252242 (MANE Select)
0.585
ENST00000456000
0.585
ENST00000549420
0.585
ENST00000551275
0.585
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519815A>T , CM000674.2:g.52519815A>T | GRCh38 |
| NC_000012.11:g.52913599A>T , CM000674.1:g.52913599A>T | GRCh37 |
| NC_000012.10:g.51199866A>T | NCBI36 |
| NG_008297.1:g.5645T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.482T>A MANE Select | ENSP00000252242.4:p.Ile161Asn | |
| ENST00000252242.8:c.482T>A | ENSP00000252242.4:p.Ile161Asn | |
| ENST00000549420.1:c.152T>A | ENSP00000447209.1:p.Ile51Asn | |
| ENST00000551275.1:c.377T>A | ENSP00000448041.1:p.Ile126Asn | |
| ENST00000552629.5:n.580T>A | ||
| NM_000424.3:c.482T>A | NP_000415.2:p.Ile161Asn | |
| NM_000424.4:c.482T>A MANE Select | NP_000415.2:p.Ile161Asn |