Revel Score:
ENST00000359232 (MANE Select)
0.245
ENST00000554912
0.245
ENST00000539621
0.245
ENST00000556505
0.245
ENST00000555927
0.245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100292302G>A , CM000676.2:g.100292302G>A | GRCh38 |
| NC_000014.8:g.100758639G>A , CM000676.1:g.100758639G>A | GRCh37 |
| NC_000014.7:g.99828392G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359232.8:c.893C>T MANE Select | ENSP00000352167.3:p.Ala298Val | |
| ENST00000359232.7:c.893C>T | ENSP00000352167.3:p.Ala298Val | |
| ENST00000392908.7:c.*411C>T | ENSP00000376640.3:n.*411C>T | |
| ENST00000554912.1:c.695C>T | ENSP00000450913.1:p.Ala232Val | |
| ENST00000555927.5:c.695C>T | ENSP00000452078.1:p.Ala232Val | |
| ENST00000556505.5:c.695C>T | ENSP00000452446.1:p.Ala232Val | |
| NM_001039355.2:c.893C>T | NP_001034444.1:p.Ala298Val | |
| NM_001291813.1:c.695C>T | NP_001278742.1:p.Ala232Val | |
| NM_001291814.1:c.695C>T | NP_001278743.1:p.Ala232Val | |
| NM_152333.3:c.695C>T | NP_689546.1:p.Ala232Val | |
| XM_006720038.1:c.1034C>T | XP_006720101.1:p.Ala345Val | |
| XM_006720039.2:c.1010C>T | XP_006720102.1:p.Ala337Val | |
| XM_011536443.1:c.1028C>T | XP_011534745.1:p.Ala343Val | |
| XM_011536444.1:c.875C>T | XP_011534746.1:p.Ala292Val | |
| XM_011536445.1:c.695C>T | XP_011534747.1:p.Ala232Val | |
| XM_011536446.1:c.695C>T | XP_011534748.1:p.Ala232Val | |
| XM_011536447.1:c.695C>T | XP_011534749.1:p.Ala232Val | |
| XM_011536448.1:c.695C>T | XP_011534750.1:p.Ala232Val | |
| XR_943390.1:n.1828C>T | ||
| NM_001352820.1:c.695C>T | NP_001339749.1:p.Ala232Val | |
| NM_001352821.1:c.1052C>T | NP_001339750.1:p.Ala351Val | |
| NM_001352822.1:c.695C>T | NP_001339751.1:p.Ala232Val | |
| NM_001352823.1:c.695C>T | NP_001339752.1:p.Ala232Val | |
| XM_006720038.2:c.1034C>T | XP_006720101.1:p.Ala345Val | |
| XM_006720039.4:c.1010C>T | XP_006720102.1:p.Ala337Val | |
| XM_011536447.2:c.695C>T | XP_011534749.1:p.Ala232Val | |
| XM_011536448.2:c.695C>T | XP_011534750.1:p.Ala232Val | |
| XM_024449479.1:c.875C>T | XP_024305247.1:p.Ala292Val | |
| XR_001750155.1:n.1354C>T | ||
| NM_001039355.3:c.893C>T MANE Select | NP_001034444.1:p.Ala298Val | |
| NM_001291813.2:c.695C>T | NP_001278742.1:p.Ala232Val | |
| NM_001291814.2:c.695C>T | NP_001278743.1:p.Ala232Val | |
| NM_001352820.2:c.695C>T | NP_001339749.1:p.Ala232Val | |
| NM_001352821.2:c.1052C>T | NP_001339750.1:p.Ala351Val | |
| NM_001352822.2:c.695C>T | NP_001339751.1:p.Ala232Val | |
| NM_001352823.2:c.695C>T | NP_001339752.1:p.Ala232Val | |
| NM_152333.4:c.695C>T | NP_689546.1:p.Ala232Val |