Revel Score:
ENST00000337818
0.912
ENST00000397231
0.912
ENST00000216181 (MANE Select)
0.912
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36284474C>T , CM000684.2:g.36284474C>T | GRCh38 |
| NC_000022.10:g.36680520C>T , CM000684.1:g.36680520C>T | GRCh37 |
| NC_000022.9:g.35010466C>T | NCBI36 |
| NG_011884.2:g.108545G>A , LRG_567:g.108545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.1954G>A | ||
| ENST00000685801.1:c.5584G>A | ENSP00000510688.1:p.Glu1862Lys | |
| ENST00000690244.1:n.857G>A | ||
| ENST00000691109.1:n.5816G>A | ||
| ENST00000216181.11:c.5521G>A MANE Select | ENSP00000216181.6:p.Glu1841Lys | |
| ENST00000216181.9:c.5521G>A | ENSP00000216181.5:p.Glu1841Lys | |
| ENST00000475726.5:n.551G>A | ||
| ENST00000486218.1:n.528G>A | ||
| NM_002473.5:c.5521G>A , LRG_567t1:c.5521G>A | NP_002464.1:p.Glu1841Lys | |
| XM_011530197.1:c.5521G>A | XP_011528499.1:p.Glu1841Lys | |
| XM_011530197.2:c.5521G>A | XP_011528499.1:p.Glu1841Lys | |
| XM_017028803.1:c.5521G>A | XP_016884292.1:p.Glu1841Lys | |
| XM_017028804.1:c.5521G>A | XP_016884293.1:p.Glu1841Lys | |
| XM_017028805.1:c.5521G>A | XP_016884294.1:p.Glu1841Lys | |
| XM_017028806.1:c.5521G>A | XP_016884295.1:p.Glu1841Lys | |
| NM_002473.6:c.5521G>A MANE Select | NP_002464.1:p.Glu1841Lys |