Revel Score:
ENST00000251810 (MANE Select)
0.989
ENST00000535248
0.989
ENST00000395912
0.989
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102224972A>G , CM000670.2:g.102224972A>G | GRCh38 |
| NC_000008.10:g.103237200A>G , CM000670.1:g.103237200A>G | GRCh37 |
| NC_000008.9:g.103306376A>G | NCBI36 |
| NG_016617.1:g.19147T>C , LRG_788:g.19147T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.368T>C MANE Select | ENSP00000251810.3:p.Phe123Ser | |
| ENST00000251810.7:c.368T>C | ENSP00000251810.3:p.Phe123Ser | |
| ENST00000395912.6:c.212T>C | ENSP00000379248.2:p.Phe71Ser | |
| ENST00000519317.5:c.49-10814T>C | ENSP00000430641.1:n.49-10814T>C | |
| ENST00000519962.5:c.48+13855T>C | ENSP00000429140.1:n.48+13855T>C | |
| ENST00000522368.5:c.537T>C | ||
| ENST00000522394.1:c.122+7259T>C | ENSP00000429578.1:n.122+7259T>C | |
| ENST00000523957.1:c.*291T>C | ENSP00000427830.1:n.*291T>C | |
| ENST00000621845.1:c.206T>C | ENSP00000484318.1:p.Phe69Ser | |
| NM_001172477.1:c.584T>C , LRG_788t1:c.584T>C | NP_001165948.1:p.Phe195Ser | |
| NM_001172478.1:c.212T>C | NP_001165949.1:p.Phe71Ser | |
| NM_015713.4:c.368T>C , LRG_788t2:c.368T>C | NP_056528.2:p.Phe123Ser | |
| NM_001172478.2:c.212T>C | NP_001165949.1:p.Phe71Ser | |
| NM_015713.5:c.368T>C MANE Select | NP_056528.2:p.Phe123Ser |