Revel Score:
ENST00000407106
0.814
ENST00000261755
0.814
ENST00000539156
0.814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80173143A>T , CM000677.2:g.80173143A>T | GRCh38 |
| NC_000015.9:g.80465485A>T , CM000677.1:g.80465485A>T | GRCh37 |
| NC_000015.8:g.78252540A>T | NCBI36 |
| NG_012833.1:g.25145A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.925A>T | ||
| ENST00000561421.6:c.836A>T MANE Select | ENSP00000453347.2:p.Gln279Leu | |
| ENST00000646551.1:n.2450A>T | ||
| ENST00000261755.9:c.836A>T | ENSP00000261755.5:p.Gln279Leu | |
| ENST00000407106.5:c.836A>T | ENSP00000385080.1:p.Gln279Leu | |
| ENST00000539156.5:c.626A>T | ENSP00000454271.1:p.Gln209Leu | |
| ENST00000558627.1:n.764A>T | ||
| ENST00000559542.1:n.172A>T | ||
| ENST00000561421.5:c.836A>T | ENSP00000453347.1:p.Gln279Leu | |
| NM_000137.2:c.836A>T | NP_000128.1:p.Gln279Leu | |
| XM_024449872.1:c.836A>T | XP_024305640.1:p.Gln279Leu | |
| NM_000137.4:c.836A>T MANE Select | NP_000128.1:p.Gln279Leu | |
| NM_001374377.1:c.836A>T | NP_001361306.1:p.Gln279Leu | |
| NM_001374380.1:c.836A>T | NP_001361309.1:p.Gln279Leu |