Revel Score:
ENST00000380152 (MANE Select)
0.505
ENST00000544455
0.505
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000226 (AMR)
Genomes Max Group AF
0.00005289 (AMR)
Exomes Max Group AF
0.00000531 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380136A>G , CM000675.2:g.32380136A>G | GRCh38 |
| NC_000013.10:g.32954273A>G , CM000675.1:g.32954273A>G | GRCh37 |
| NC_000013.9:g.31852273A>G | NCBI36 |
| NG_012772.3:g.69657A>G , LRG_293:g.69657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9247A>G | ENSP00000434898.2:p.Lys3083Glu | |
| ENST00000528762.2:c.*614A>G | ENSP00000433168.2:n.*614A>G | |
| ENST00000530893.7:c.8878A>G | ENSP00000499438.2:p.Lys2960Glu | |
| ENST00000665585.2:c.*809A>G | ENSP00000499570.2:n.*809A>G | |
| ENST00000666593.2:c.9247A>G | ENSP00000499256.2:p.Lys3083Glu | |
| ENST00000700202.2:c.9196A>G | ENSP00000514856.2:p.Lys3066Glu | |
| ENST00000700202.1:c.1663A>G | ENSP00000514856.1:p.Lys555Glu | |
| ENST00000700203.1:n.1374A>G | ||
| ENST00000380152.8:c.9247A>G MANE Select | ENSP00000369497.3:p.Lys3083Glu | |
| ENST00000544455.6:c.9247A>G | ENSP00000439902.1:p.Lys3083Glu | |
| ENST00000614259.2:c.9255A>G | ENSP00000506251.1:n.9255A>G | |
| ENST00000665585.1:c.2125A>G | ||
| ENST00000666593.1:c.130A>G | ENSP00000499256.1:p.Lys44Glu | |
| ENST00000680887.1:c.9247A>G | ENSP00000505508.1:p.Lys3083Glu | |
| ENST00000380152.7:c.9247A>G | ENSP00000369497.3:p.Lys3083Glu | |
| ENST00000470094.1:c.204A>G | ||
| ENST00000544455.5:c.9247A>G | ENSP00000439902.1:p.Lys3083Glu | |
| NM_000059.3:c.9247A>G , LRG_293t1:c.9247A>G | NP_000050.2:p.Lys3083Glu | |
| XM_011535203.1:c.9247A>G | XP_011533505.1:p.Lys3083Glu | |
| XM_011535204.1:c.9151A>G | XP_011533506.1:p.Lys3051Glu | |
| NM_000059.4:c.9247A>G MANE Select | NP_000050.3:p.Lys3083Glu |