Revel Score:
ENST00000442544 (MANE Select)
0.627
ENST00000304775
0.627
ENST00000412726
0.627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53386061T>G , CM000680.2:g.53386061T>G | GRCh38 |
| NC_000018.9:g.50912431T>G , CM000680.1:g.50912431T>G | GRCh37 |
| NC_000018.8:g.49166429T>G | NCBI36 |
| NG_013341.1:g.1050890T>G | |
| NG_013341.2:g.1050890T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.2378T>G MANE Select | ENSP00000389140.2:p.Val793Gly | |
| ENST00000304775.12:c.2179T>G | ||
| ENST00000412726.5:c.2309T>G | ENSP00000397322.2:p.Val770Gly | |
| ENST00000442544.6:c.2378T>G | ENSP00000389140.2:p.Val793Gly | |
| ENST00000581580.5:c.1343T>G | ENSP00000464582.1:p.Val448Gly | |
| NM_005215.3:c.2378T>G | NP_005206.2:p.Val793Gly | |
| XM_011525843.1:c.2378T>G | XP_011524145.1:p.Val793Gly | |
| XM_011525844.1:c.1343T>G | XP_011524146.1:p.Val448Gly | |
| XM_011525845.1:c.2378T>G | XP_011524147.1:p.Val793Gly | |
| XM_011525846.1:c.2378T>G | XP_011524148.1:p.Val793Gly | |
| XM_011525844.2:c.1343T>G | XP_011524146.1:p.Val448Gly | |
| XM_017025568.1:c.2378T>G | XP_016881057.1:p.Val793Gly | |
| XM_017025569.1:c.2378T>G | XP_016881058.1:p.Val793Gly | |
| XM_017025570.1:c.1343T>G | XP_016881059.1:p.Val448Gly | |
| NM_005215.4:c.2378T>G MANE Select | NP_005206.2:p.Val793Gly |