Revel Score:
ENST00000381655 (MANE Select)
0.804
ENST00000255283
0.804
ENST00000544544
0.804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.25553863C>G , CM000675.2:g.25553863C>G | GRCh38 |
| NC_000013.10:g.26128001C>G , CM000675.1:g.26128001C>G | GRCh37 |
| NC_000013.9:g.25026001C>G | NCBI36 |
| NG_042855.1:g.186853C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281620.11:c.1118C>G | ENSP00000281620.7:n.1118C>G | |
| ENST00000682472.1:c.1128C>G | ENSP00000508103.1:p.Ile376Met | |
| ENST00000682942.1:n.1569C>G | ||
| ENST00000682943.1:c.*662C>G | ENSP00000507323.1:n.*662C>G | |
| ENST00000683303.1:c.1128C>G | ENSP00000508339.1:p.Ile376Met | |
| ENST00000683455.1:n.386C>G | ||
| ENST00000683845.1:n.1568C>G | ||
| ENST00000683945.1:n.1040C>G | ||
| ENST00000683960.1:c.1128C>G | ENSP00000506846.1:p.Ile376Met | |
| ENST00000684025.1:n.1193C>G | ||
| ENST00000684283.1:c.1128C>G | ENSP00000507994.1:p.Ile376Met | |
| ENST00000684424.1:c.1008C>G | ENSP00000507489.1:p.Ile336Met | |
| ENST00000684551.1:n.299C>G | ||
| ENST00000381655.7:c.1128C>G MANE Select | ENSP00000371070.2:p.Ile376Met | |
| ENST00000255283.9:c.1008C>G | ENSP00000255283.9:p.Ile336Met | |
| ENST00000281620.10:c.648C>G | ENSP00000281620.6:p.Ile216Met | |
| ENST00000381655.6:c.1128C>G | ENSP00000371070.2:p.Ile376Met | |
| NM_001313741.1:c.1008C>G | NP_001300670.1:p.Ile336Met | |
| NM_016529.4:c.1128C>G | NP_057613.4:p.Ile376Met | |
| NM_016529.5:c.1128C>G | NP_057613.4:p.Ile376Met | |
| XM_005266419.1:c.1008C>G | XP_005266476.1:p.Ile336Met | |
| XM_011535103.1:c.1128C>G | XP_011533405.1:p.Ile376Met | |
| XM_011535104.1:c.1008C>G | XP_011533406.1:p.Ile336Met | |
| XM_011535106.1:c.1128C>G | XP_011533408.1:p.Ile376Met | |
| XM_011535107.1:c.1128C>G | XP_011533409.1:p.Ile376Met | |
| XM_011535108.1:c.648C>G | XP_011533410.1:p.Ile216Met | |
| XM_011535109.1:c.648C>G | XP_011533411.1:p.Ile216Met | |
| XM_011535110.1:c.579C>G | XP_011533412.1:p.Ile193Met | |
| XM_011535111.1:c.579C>G | XP_011533413.1:p.Ile193Met | |
| XM_011535112.1:c.648C>G | XP_011533414.1:p.Ile216Met | |
| XM_011535113.1:c.1128C>G | XP_011533415.1:p.Ile376Met | |
| XM_011535114.1:c.1128C>G | XP_011533416.1:p.Ile376Met | |
| XM_011535104.3:c.1008C>G | XP_011533406.1:p.Ile336Met | |
| XM_011535107.3:c.1128C>G | XP_011533409.1:p.Ile376Met | |
| XM_011535109.3:c.648C>G | XP_011533411.1:p.Ile216Met | |
| XM_011535113.2:c.1128C>G | XP_011533415.1:p.Ile376Met | |
| XM_017020625.2:c.1128C>G | XP_016876114.1:p.Ile376Met | |
| XM_017020626.1:c.1128C>G | XP_016876115.1:p.Ile376Met | |
| XM_024449369.1:c.534C>G | XP_024305137.1:p.Ile178Met | |
| NM_016529.6:c.1128C>G MANE Select | NP_057613.4:p.Ile376Met |