Revel Score:
ENST00000168216 (MANE Select)
0.477
ENST00000375304
0.477
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53431556T>C , CM000685.2:g.53431556T>C | GRCh38 |
| NC_000023.10:g.53458504T>C , CM000685.1:g.53458504T>C | GRCh37 |
| NC_000023.9:g.53475229T>C | NCBI36 |
| NG_008153.1:g.7820A>G , LRG_450:g.7820A>G | |
| NG_033076.2:g.13702T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.751A>G | ||
| ENST00000682365.1:n.2383A>G | ||
| ENST00000684251.1:n.762A>G | ||
| ENST00000684503.1:n.799A>G | ||
| ENST00000684692.1:c.*183A>G | ENSP00000506792.1:n.*183A>G | |
| ENST00000168216.11:c.634A>G MANE Select | ENSP00000168216.6:p.Lys212Glu | |
| ENST00000168216.10:c.634A>G | ENSP00000168216.6:p.Lys212Glu | |
| ENST00000375298.4:c.*15A>G | ENSP00000364447.4:n.*15A>G | |
| ENST00000375304.9:c.607A>G | ENSP00000364453.5:p.Lys203Glu | |
| ENST00000477706.1:n.258A>G | ||
| NM_001037811.2:c.607A>G , LRG_450t2:c.607A>G | NP_001032900.1:p.Lys203Glu | |
| NM_004493.2:c.634A>G , LRG_450t1:c.634A>G | NP_004484.1:p.Lys212Glu | |
| NM_004493.3:c.634A>G MANE Select | NP_004484.1:p.Lys212Glu |