Revel Score:
ENST00000168216 (MANE Select)
0.822
ENST00000375304
0.822
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53431445C>G , CM000685.2:g.53431445C>G | GRCh38 |
| NC_000023.10:g.53458393C>G , CM000685.1:g.53458393C>G | GRCh37 |
| NC_000023.9:g.53475118C>G | NCBI36 |
| NG_008153.1:g.7931G>C , LRG_450:g.7931G>C | |
| NG_033076.2:g.13591C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495986.2:n.862G>C | ||
| ENST00000682365.1:n.2494G>C | ||
| ENST00000684251.1:n.873G>C | ||
| ENST00000684692.1:c.*294G>C | ENSP00000506792.1:n.*294G>C | |
| ENST00000168216.11:c.745G>C MANE Select | ENSP00000168216.6:p.Glu249Gln | |
| ENST00000168216.10:c.745G>C | ENSP00000168216.6:p.Glu249Gln | |
| ENST00000375298.4:c.*126G>C | ENSP00000364447.4:n.*126G>C | |
| ENST00000375304.9:c.718G>C | ENSP00000364453.5:p.Glu240Gln | |
| ENST00000477706.1:n.369G>C | ||
| NM_001037811.2:c.718G>C , LRG_450t2:c.718G>C | NP_001032900.1:p.Glu240Gln | |
| NM_004493.2:c.745G>C , LRG_450t1:c.745G>C | NP_004484.1:p.Glu249Gln | |
| NM_004493.3:c.745G>C MANE Select | NP_004484.1:p.Glu249Gln |