Revel Score:
ENST00000262464 (MANE Select)
0.975
ENST00000508053
0.975
ENST00000508989
0.975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128339061T>A , CM000667.2:g.128339061T>A | GRCh38 |
| NC_000005.9:g.127674753T>A , CM000667.1:g.127674753T>A | GRCh37 |
| NC_000005.8:g.127702652T>A | NCBI36 |
| NG_008750.1:g.203983A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.128A>T | ||
| ENST00000703785.1:n.209A>T | ||
| ENST00000262464.9:c.3344A>T MANE Select | ENSP00000262464.4:p.Asp1115Val | |
| ENST00000262464.8:c.3344A>T | ENSP00000262464.4:p.Asp1115Val | |
| ENST00000507835.5:c.-107A>T | ENSP00000426839.1:n.-107A>T | |
| ENST00000508053.5:c.3344A>T | ENSP00000424571.1:p.Asp1115Val | |
| ENST00000508989.5:c.3245A>T | ENSP00000425596.1:p.Asp1082Val | |
| ENST00000619499.4:c.3341A>T | ENSP00000482132.1:p.Asp1114Val | |
| NM_001999.3:c.3344A>T | NP_001990.2:p.Asp1115Val | |
| XM_017009228.2:c.3191A>T | XP_016864717.1:p.Asp1064Val | |
| NM_001999.4:c.3344A>T MANE Select | NP_001990.2:p.Asp1115Val |