Revel Score:
ENST00000513807
0.953
ENST00000509442
0.953
ENST00000355943 (MANE Select)
0.953
ENST00000514046
0.953
ENST00000447245
0.953
ENST00000504098
0.953
ENST00000509432
0.953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110761523C>T , CM000667.2:g.110761523C>T | GRCh38 |
| NC_000005.9:g.110097223C>T , CM000667.1:g.110097223C>T | GRCh37 |
| NC_000005.8:g.110125122C>T | NCBI36 |
| NG_051334.1:g.28388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355943.8:c.998C>T MANE Select | ENSP00000348211.3:p.Pro333Leu | |
| ENST00000355943.7:c.998C>T | ENSP00000348211.3:p.Pro333Leu | |
| ENST00000447245.6:c.755C>T | ENSP00000399717.2:p.Pro252Leu | |
| ENST00000502462.6:n.1314C>T | ||
| ENST00000504098.1:c.560C>T | ENSP00000425708.1:p.Pro187Leu | |
| ENST00000509432.1:c.359C>T | ENSP00000426604.1:p.Pro120Leu | |
| ENST00000513706.2:n.2598C>T | ||
| ENST00000513807.5:c.512C>T | ENSP00000421134.1:p.Pro171Leu | |
| NM_001303249.1:c.755C>T | NP_001290178.1:p.Pro252Leu | |
| NM_001303250.1:c.725C>T | NP_001290179.1:p.Pro242Leu | |
| NM_138773.2:c.998C>T | NP_620128.1:p.Pro333Leu | |
| NM_001303249.2:c.755C>T | NP_001290178.1:p.Pro252Leu | |
| NM_001303250.2:c.725C>T | NP_001290179.1:p.Pro242Leu | |
| NM_138773.3:c.998C>T | NP_620128.1:p.Pro333Leu | |
| NR_138151.1:n.1272C>T | ||
| NM_138773.4:c.998C>T MANE Select | NP_620128.1:p.Pro333Leu | |
| NM_001303249.3:c.755C>T | NP_001290178.1:p.Pro252Leu | |
| NM_001303250.3:c.725C>T | NP_001290179.1:p.Pro242Leu | |
| NR_138151.2:n.1237C>T |