Revel Score:
ENST00000264414 (MANE Select)
0.563
ENST00000344951
0.563
ENST00000409096
0.563
ENST00000409777
0.563
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224511383A>G , CM000664.2:g.224511383A>G | GRCh38 |
| NC_000002.11:g.225376100A>G , CM000664.1:g.225376100A>G | GRCh37 |
| NC_000002.10:g.225084344A>G | NCBI36 |
| NG_032169.1:g.79015T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.854T>C MANE Select | ENSP00000264414.4:p.Val285Ala | |
| ENST00000264414.8:c.854T>C | ENSP00000264414.4:p.Val285Ala | |
| ENST00000344951.8:c.656T>C | ENSP00000343601.4:p.Val219Ala | |
| ENST00000409096.5:c.782T>C | ENSP00000387200.1:p.Val261Ala | |
| ENST00000409777.5:c.782T>C | ENSP00000386525.1:p.Val261Ala | |
| ENST00000484081.1:n.29T>C | ||
| NM_001257197.1:c.656T>C | NP_001244126.1:p.Val219Ala | |
| NM_001257198.1:c.872T>C | NP_001244127.1:p.Val291Ala | |
| NM_003590.4:c.854T>C | NP_003581.1:p.Val285Ala | |
| XM_006712800.2:c.821T>C | XP_006712863.2:p.Val274Ala | |
| XM_011511994.1:c.707T>C | XP_011510296.1:p.Val236Ala | |
| XM_011511995.1:c.812T>C | XP_011510297.1:p.Val271Ala | |
| XM_011511996.1:c.662T>C | XP_011510298.1:p.Val221Ala | |
| XM_011511997.1:c.554T>C | XP_011510299.1:p.Val185Ala | |
| XM_011511994.3:c.707T>C | XP_011510296.1:p.Val236Ala | |
| XM_011511996.2:c.662T>C | XP_011510298.1:p.Val221Ala | |
| NM_003590.5:c.854T>C MANE Select | NP_003581.1:p.Val285Ala | |
| NM_001257198.2:c.872T>C | NP_001244127.1:p.Val291Ala | |
| NM_001257197.2:c.656T>C | NP_001244126.1:p.Val219Ala |