Revel Score:
ENST00000245907 (MANE Select)
0.627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6719285T>C , CM000681.2:g.6719285T>C | GRCh38 |
| NC_000019.9:g.6719296T>C , CM000681.1:g.6719296T>C | GRCh37 |
| NC_000019.8:g.6670296T>C | NCBI36 |
| NG_009557.1:g.6367A>G , LRG_27:g.6367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594936.2:n.254A>G | ||
| ENST00000695652.1:c.70A>G | ENSP00000512083.1:p.Lys24Glu | |
| ENST00000695693.1:c.193A>G | ENSP00000512104.1:p.Lys65Glu | |
| ENST00000245907.11:c.193A>G MANE Select | ENSP00000245907.4:p.Lys65Glu | |
| ENST00000245907.10:c.193A>G | ENSP00000245907.4:p.Lys65Glu | |
| ENST00000594936.1:n.254A>G | ||
| ENST00000600744.1:c.70A>G | ENSP00000472044.1:p.Lys24Glu | |
| NM_000064.3:c.193A>G | NP_000055.2:p.Lys65Glu | |
| NM_000064.4:c.193A>G MANE Select | NP_000055.2:p.Lys65Glu |