Revel Score:
ENST00000380152 (MANE Select)
0.589
ENST00000544455
0.589
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394814C>G , CM000675.2:g.32394814C>G | GRCh38 |
| NC_000013.10:g.32968951C>G , CM000675.1:g.32968951C>G | GRCh37 |
| NC_000013.9:g.31866951C>G | NCBI36 |
| NG_012772.3:g.84335C>G , LRG_293:g.84335C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9382C>G | ENSP00000434898.2:p.Arg3128Gly | |
| ENST00000528762.2:c.*749C>G | ENSP00000433168.2:n.*749C>G | |
| ENST00000530893.7:c.9013C>G | ENSP00000499438.2:p.Arg3005Gly | |
| ENST00000665585.2:c.*944C>G | ENSP00000499570.2:n.*944C>G | |
| ENST00000666593.2:c.*227C>G | ENSP00000499256.2:n.*227C>G | |
| ENST00000700202.2:c.9331C>G | ENSP00000514856.2:p.Arg3111Gly | |
| ENST00000700202.1:c.1798C>G | ENSP00000514856.1:p.Arg600Gly | |
| ENST00000700203.1:n.1509C>G | ||
| ENST00000380152.8:c.9382C>G MANE Select | ENSP00000369497.3:p.Arg3128Gly | |
| ENST00000544455.6:c.9382C>G | ENSP00000439902.1:p.Arg3128Gly | |
| ENST00000614259.2:c.9390C>G | ENSP00000506251.1:n.9390C>G | |
| ENST00000665585.1:c.2260C>G | ||
| ENST00000666593.1:c.404C>G | ENSP00000499256.1:n.404C>G | |
| ENST00000680887.1:c.9382C>G | ENSP00000505508.1:p.Arg3128Gly | |
| ENST00000380152.7:c.9382C>G | ENSP00000369497.3:p.Arg3128Gly | |
| ENST00000470094.1:c.339C>G | ||
| ENST00000544455.5:c.9382C>G | ENSP00000439902.1:p.Arg3128Gly | |
| NM_000059.3:c.9382C>G , LRG_293t1:c.9382C>G | NP_000050.2:p.Arg3128Gly | |
| XM_011535203.1:c.9382C>G | XP_011533505.1:p.Arg3128Gly | |
| XM_011535204.1:c.9286C>G | XP_011533506.1:p.Arg3096Gly | |
| NM_000059.4:c.9382C>G MANE Select | NP_000050.3:p.Arg3128Gly |