Revel Score:
ENST00000539566
0.685
ENST00000454036
0.881
ENST00000243964 (MANE Select)
0.881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46045891G>A , CM000682.2:g.46045891G>A | GRCh38 |
| NC_000020.10:g.44674530G>A , CM000682.1:g.44674530G>A | GRCh37 |
| NC_000020.9:g.44107937G>A | NCBI36 |
| NG_046341.1:g.29202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.1583G>A MANE Select | ENSP00000243964.4:p.Gly528Asp | |
| ENST00000243964.6:c.1583G>A | ENSP00000243964.3:p.Gly528Asp | |
| ENST00000454036.6:c.1652G>A | ENSP00000387694.1:p.Gly551Asp | |
| ENST00000539566.3:c.523G>A | ENSP00000446091.1:p.Ala175Thr | |
| ENST00000616201.4:c.1297+2199G>A | ENSP00000484585.1:n.1297+2199G>A | |
| ENST00000616202.4:c.612+8506G>A | ENSP00000478369.1:n.612+8506G>A | |
| ENST00000616933.4:c.*901G>A | ENSP00000477569.1:n.*901G>A | |
| ENST00000626144.1:n.394G>A | ||
| ENST00000626937.2:c.509+8609G>A | ENSP00000485953.1:n.509+8609G>A | |
| NM_001134771.1:c.1652G>A | NP_001128243.1:p.Gly551Asp | |
| NM_020708.4:c.1583G>A | NP_065759.1:p.Gly528Asp | |
| XM_017027981.1:c.1652G>A | XP_016883470.1:p.Gly551Asp | |
| NM_001134771.2:c.1652G>A | NP_001128243.1:p.Gly551Asp | |
| NM_020708.5:c.1583G>A MANE Select | NP_065759.1:p.Gly528Asp |