Revel Score:
ENST00000279593
0.933
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13567164C>T , CM000674.2:g.13567164C>T | GRCh38 |
| NC_000012.11:g.13720098C>T , CM000674.1:g.13720098C>T | GRCh37 |
| NC_000012.10:g.13611365C>T | NCBI36 |
| NG_031854.1:g.417925G>A | |
| NG_031854.2:g.419849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.2459G>A MANE Select | ENSP00000477455.1:p.Gly820Glu | |
| ENST00000628166.2:n.719G>A | ||
| ENST00000637214.1:c.69+41439G>A | ENSP00000489997.1:n.69+41439G>A | |
| ENST00000609686.3:c.2459G>A | ENSP00000477455.1:p.Gly820Glu | |
| ENST00000628166.1:n.719G>A | ||
| NM_000834.3:c.2459G>A | NP_000825.2:p.Gly820Glu | |
| XM_005253351.2:c.245G>A | XP_005253408.1:p.Gly82Glu | |
| XM_011520628.1:c.2459G>A | XP_011518930.1:p.Gly820Glu | |
| XM_011520629.1:c.2459G>A | XP_011518931.1:p.Gly820Glu | |
| XM_011520630.1:c.2459G>A | XP_011518932.1:p.Gly820Glu | |
| NM_000834.4:c.2459G>A | NP_000825.2:p.Gly820Glu | |
| XM_005253351.3:c.245G>A | XP_005253408.1:p.Gly82Glu | |
| XM_011520628.2:c.2459G>A | XP_011518930.1:p.Gly820Glu | |
| XM_011520629.2:c.2459G>A | XP_011518931.1:p.Gly820Glu | |
| XM_017019219.2:c.2459G>A | XP_016874708.1:p.Gly820Glu | |
| NM_000834.5:c.2459G>A MANE Select | NP_000825.2:p.Gly820Glu |