Revel Score:
ENST00000437525 (MANE Select)
0.036
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39316274G>C , CM000668.2:g.39316274G>C | GRCh38 |
| NC_000006.11:g.39284050G>C , CM000668.1:g.39284050G>C | GRCh37 |
| NC_000006.10:g.39392028G>C | NCBI36 |
| NG_047208.1:g.3188C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437525.3:c.830C>G MANE Select | ENSP00000415375.2:p.Ala277Gly | |
| ENST00000373227.8:c.661+508C>G | ENSP00000362324.4:n.661+508C>G | |
| ENST00000373229.9:c.802+28C>G | ENSP00000362326.5:n.802+28C>G | |
| ENST00000425054.6:c.661+508C>G | ENSP00000391498.2:n.661+508C>G | |
| ENST00000437525.2:c.830C>G | ENSP00000415375.2:p.Ala277Gly | |
| ENST00000507712.5:c.466+508C>G | ENSP00000423842.1:n.466+508C>G | |
| NM_001135105.1:c.661+508C>G | NP_001128577.1:n.661+508C>G | |
| NM_001135106.1:c.830C>G | NP_001128578.1:p.Ala277Gly | |
| NM_001135107.1:c.661+508C>G | NP_001128579.1:n.661+508C>G | |
| NM_032115.3:c.802+28C>G | NP_115491.1:n.802+28C>G | |
| XM_011514934.1:c.739+245C>G | XP_011513236.1:n.739+245C>G | |
| XM_011514935.1:c.466+508C>G | XP_011513237.1:n.466+508C>G | |
| XR_926774.1:n.72+2050G>C | ||
| NM_001363784.1:c.466+508C>G | NP_001350713.1:n.466+508C>G | |
| XM_017011346.1:c.661+508C>G | XP_016866835.1:n.661+508C>G | |
| XR_926774.2:n.82+2050G>C | ||
| NM_001135105.2:c.661+508C>G | NP_001128577.1:n.661+508C>G | |
| NM_001135106.2:c.830C>G MANE Select | NP_001128578.1:p.Ala277Gly | |
| NM_001135107.2:c.661+508C>G | NP_001128579.1:n.661+508C>G | |
| NM_032115.4:c.802+28C>G | NP_115491.1:n.802+28C>G |