Revel Score:
ENST00000304636 (MANE Select)
0.995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189006400G>T , CM000664.2:g.189006400G>T | GRCh38 |
| NC_000002.11:g.189871126G>T , CM000664.1:g.189871126G>T | GRCh37 |
| NC_000002.10:g.189579371G>T | NCBI36 |
| NG_007404.1:g.37028G>T , LRG_3:g.37028G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3050G>T | ENSP00000415346.2:p.Gly1017Val | |
| ENST00000304636.9:c.3149G>T MANE Select | ENSP00000304408.4:p.Gly1050Val | |
| ENST00000304636.7:c.3149G>T | ENSP00000304408.3:p.Gly1050Val | |
| ENST00000317840.9:c.2528-1654G>T | ENSP00000315243.6:n.2528-1654G>T | |
| NM_000090.3:c.3149G>T , LRG_3t1:c.3149G>T | NP_000081.1:p.Gly1050Val | |
| NM_000090.4:c.3149G>T MANE Select | NP_000081.2:p.Gly1050Val |