Revel Score:
ENST00000389266 (MANE Select)
0.666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30599995G>C , CM000669.2:g.30599995G>C | GRCh38 |
| NC_000007.13:g.30639611G>C , CM000669.1:g.30639611G>C | GRCh37 |
| NC_000007.12:g.30606136G>C | NCBI36 |
| NG_007942.1:g.10431G>C , LRG_243:g.10431G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.373G>C MANE Select | ENSP00000373918.3:p.Glu125Gln | |
| ENST00000444666.6:c.373G>C | ENSP00000415447.2:p.Glu125Gln | |
| ENST00000454308.6:c.373G>C | ENSP00000392677.2:p.Glu125Gln | |
| ENST00000470392.2:n.463G>C | ||
| ENST00000478124.6:n.436G>C | ||
| ENST00000485784.2:n.452G>C | ||
| ENST00000674616.1:c.*87G>C | ENSP00000502408.1:n.*87G>C | |
| ENST00000674643.1:c.373G>C | ENSP00000501636.1:p.Glu125Gln | |
| ENST00000674737.1:c.373G>C | ENSP00000502464.1:p.Glu125Gln | |
| ENST00000674807.1:c.373G>C | ENSP00000502814.1:p.Glu125Gln | |
| ENST00000674815.1:c.4G>C | ENSP00000502799.1:p.Glu2Gln | |
| ENST00000674851.1:c.4G>C | ENSP00000502451.1:p.Glu2Gln | |
| ENST00000674969.1:n.413G>C | ||
| ENST00000675025.1:n.289G>C | ||
| ENST00000675051.1:c.172G>C | ENSP00000502296.1:p.Glu58Gln | |
| ENST00000675529.1:c.*243G>C | ENSP00000501655.1:n.*243G>C | |
| ENST00000675587.1:n.389G>C | ||
| ENST00000675651.1:c.373G>C | ENSP00000502513.1:p.Glu125Gln | |
| ENST00000675693.1:c.205G>C | ENSP00000502174.1:p.Glu69Gln | |
| ENST00000675810.1:c.271G>C | ENSP00000502743.1:p.Glu91Gln | |
| ENST00000675859.1:c.373G>C | ENSP00000502033.1:p.Glu125Gln | |
| ENST00000675863.1:n.381G>C | ||
| ENST00000675886.1:n.401G>C | ||
| ENST00000676088.1:c.*243G>C | ENSP00000501884.1:n.*243G>C | |
| ENST00000676140.1:c.373G>C | ENSP00000502571.1:p.Glu125Gln | |
| ENST00000676164.1:c.373G>C | ENSP00000501986.1:p.Glu125Gln | |
| ENST00000676210.1:c.373G>C | ENSP00000502373.1:p.Glu125Gln | |
| ENST00000676259.1:c.373G>C | ENSP00000501980.1:p.Glu125Gln | |
| ENST00000676403.1:c.373G>C | ENSP00000502681.1:p.Glu125Gln | |
| ENST00000389266.7:c.373G>C | ENSP00000373918.3:p.Glu125Gln | |
| ENST00000454308.5:c.*243G>C | ENSP00000392677.1:n.*243G>C | |
| ENST00000478124.5:n.411G>C | ||
| NM_001316772.1:c.211G>C | NP_001303701.1:p.Glu71Gln | |
| NM_002047.2:c.373G>C , LRG_243t1:c.373G>C | NP_002038.2:p.Glu125Gln | |
| NM_002047.3:c.373G>C | NP_002038.2:p.Glu125Gln | |
| XM_006715686.1:c.4G>C | XP_006715749.1:p.Glu2Gln | |
| XM_006715686.2:c.4G>C | XP_006715749.1:p.Glu2Gln | |
| NM_002047.4:c.373G>C MANE Select | NP_002038.2:p.Glu125Gln |