Revel Score:
ENST00000426263 (MANE Select)
0.923
ENST00000372501
0.923
ENST00000397019
0.923
ENST00000439722
0.923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929612T>C , CM000663.2:g.42929612T>C | GRCh38 |
| NC_000001.10:g.43395283T>C , CM000663.1:g.43395283T>C | GRCh37 |
| NC_000001.9:g.43167870T>C | NCBI36 |
| NG_008232.1:g.34565A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.848A>G MANE Select | ENSP00000416293.2:p.Gln283Arg | |
| ENST00000674765.1:c.848A>G | ENSP00000501811.1:p.Gln283Arg | |
| ENST00000675112.1:n.871A>G | ||
| ENST00000676254.1:n.1297A>G | ||
| ENST00000426263.7:c.848A>G | ENSP00000416293.2:p.Gln283Arg | |
| ENST00000439722.2:c.727A>G | ENSP00000395521.2:n.727A>G | |
| ENST00000475162.3:c.415+1014A>G | ||
| ENST00000630287.2:c.*163A>G | ENSP00000486694.1:n.*163A>G | |
| NM_006516.2:c.848A>G | NP_006507.2:p.Gln283Arg | |
| NM_006516.3:c.848A>G | NP_006507.2:p.Gln283Arg | |
| NM_006516.4:c.848A>G MANE Select | NP_006507.2:p.Gln283Arg |