Revel Score:
ENST00000251810 (MANE Select)
0.934
ENST00000535248
0.934
ENST00000395912
0.934
ENST00000522368
0.923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102226031C>A , CM000670.2:g.102226031C>A | GRCh38 |
| NC_000008.10:g.103238259C>A , CM000670.1:g.103238259C>A | GRCh37 |
| NC_000008.9:g.103307435C>A | NCBI36 |
| NG_016617.1:g.18088G>T , LRG_788:g.18088G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.208G>T MANE Select | ENSP00000251810.3:p.Asp70Tyr | |
| ENST00000251810.7:c.208G>T | ENSP00000251810.3:p.Asp70Tyr | |
| ENST00000395912.6:c.52G>T | ENSP00000379248.2:p.Asp18Tyr | |
| ENST00000517517.1:n.517G>T | ||
| ENST00000519317.5:c.49-11873G>T | ENSP00000430641.1:n.49-11873G>T | |
| ENST00000519962.5:c.48+12796G>T | ENSP00000429140.1:n.48+12796G>T | |
| ENST00000522368.5:c.377G>T | ||
| ENST00000522394.1:c.122+6200G>T | ENSP00000429578.1:n.122+6200G>T | |
| ENST00000523957.1:c.*131G>T | ENSP00000427830.1:n.*131G>T | |
| ENST00000621845.1:c.46G>T | ENSP00000484318.1:p.Asp16Tyr | |
| NM_001172477.1:c.424G>T , LRG_788t1:c.424G>T | NP_001165948.1:p.Asp142Tyr | |
| NM_001172478.1:c.52G>T | NP_001165949.1:p.Asp18Tyr | |
| NM_015713.4:c.208G>T , LRG_788t2:c.208G>T | NP_056528.2:p.Asp70Tyr | |
| NM_001172478.2:c.52G>T | NP_001165949.1:p.Asp18Tyr | |
| NM_015713.5:c.208G>T MANE Select | NP_056528.2:p.Asp70Tyr |