Revel Score:
ENST00000216259 (MANE Select)
0.682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41584362T>A , CM000684.2:g.41584362T>A | GRCh38 |
| NC_000022.10:g.41980366T>A , CM000684.1:g.41980366T>A | GRCh37 |
| NC_000022.9:g.40310312T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216259.8:c.293A>T MANE Select | ENSP00000216259.7:p.Asn98Ile | |
| ENST00000216259.7:c.293A>T | ENSP00000216259.7:p.Asn98Ile | |
| ENST00000414636.1:c.*198A>T | ENSP00000400889.1:n.*198A>T | |
| ENST00000466645.5:n.418A>T | ||
| ENST00000472620.5:n.471A>T | ||
| ENST00000478337.1:n.467A>T | ||
| ENST00000482178.5:n.887A>T | ||
| ENST00000485648.5:n.306A>T | ||
| NM_002676.2:c.293A>T | NP_002667.2:p.Asn98Ile | |
| XM_005261638.3:c.83+165A>T | XP_005261695.1:n.83+165A>T | |
| XM_005261641.3:c.-53A>T | XP_005261698.1:n.-53A>T | |
| XM_005261642.3:c.-53A>T | XP_005261699.1:n.-53A>T | |
| XM_011530229.1:c.503+165A>T | XP_011528531.1:n.503+165A>T | |
| XM_011530230.1:c.308A>T | XP_011528532.1:p.Asn103Ile | |
| XM_011530231.1:c.164+165A>T | XP_011528533.1:n.164+165A>T | |
| XM_011530232.1:c.83+165A>T | XP_011528534.1:n.83+165A>T | |
| XM_005261638.4:c.83+165A>T | XP_005261695.1:n.83+165A>T | |
| XM_011530229.2:c.503+165A>T | XP_011528531.1:n.503+165A>T | |
| XM_011530230.2:c.308A>T | XP_011528532.1:p.Asn103Ile | |
| XM_011530231.3:c.164+165A>T | XP_011528533.1:n.164+165A>T | |
| XM_024452251.1:c.-53A>T | XP_024308019.1:n.-53A>T | |
| NM_002676.3:c.293A>T MANE Select | NP_002667.2:p.Asn98Ile |