Revel Score:
ENST00000216259 (MANE Select)
0.900
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41584335T>A , CM000684.2:g.41584335T>A | GRCh38 |
| NC_000022.10:g.41980339T>A , CM000684.1:g.41980339T>A | GRCh37 |
| NC_000022.9:g.40310285T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216259.8:c.320A>T MANE Select | ENSP00000216259.7:p.Asp107Val | |
| ENST00000216259.7:c.320A>T | ENSP00000216259.7:p.Asp107Val | |
| ENST00000414636.1:c.*225A>T | ENSP00000400889.1:n.*225A>T | |
| ENST00000466645.5:n.445A>T | ||
| ENST00000472620.5:n.498A>T | ||
| ENST00000478337.1:n.494A>T | ||
| ENST00000482178.5:n.914A>T | ||
| ENST00000485648.5:n.333A>T | ||
| NM_002676.2:c.320A>T | NP_002667.2:p.Asp107Val | |
| XM_005261638.3:c.83+192A>T | XP_005261695.1:n.83+192A>T | |
| XM_005261641.3:c.-26A>T | XP_005261698.1:n.-26A>T | |
| XM_005261642.3:c.-26A>T | XP_005261699.1:n.-26A>T | |
| XM_011530229.1:c.503+192A>T | XP_011528531.1:n.503+192A>T | |
| XM_011530230.1:c.335A>T | XP_011528532.1:p.Asp112Val | |
| XM_011530231.1:c.164+192A>T | XP_011528533.1:n.164+192A>T | |
| XM_011530232.1:c.83+192A>T | XP_011528534.1:n.83+192A>T | |
| XM_005261638.4:c.83+192A>T | XP_005261695.1:n.83+192A>T | |
| XM_011530229.2:c.503+192A>T | XP_011528531.1:n.503+192A>T | |
| XM_011530230.2:c.335A>T | XP_011528532.1:p.Asp112Val | |
| XM_011530231.3:c.164+192A>T | XP_011528533.1:n.164+192A>T | |
| XM_024452251.1:c.-26A>T | XP_024308019.1:n.-26A>T | |
| NM_002676.3:c.320A>T MANE Select | NP_002667.2:p.Asp107Val |