Revel Score:
ENST00000370053 (MANE Select)
0.299
ENST00000540534
0.299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63643872T>C , CM000682.2:g.63643872T>C | GRCh38 |
| NC_000020.10:g.62275225T>C , CM000682.1:g.62275225T>C | GRCh37 |
| NC_000020.9:g.61745669T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370053.3:c.175A>G MANE Select | ENSP00000359070.1:p.Lys59Glu | |
| ENST00000370053.2:c.175A>G | ENSP00000359070.1:p.Lys59Glu | |
| ENST00000540534.5:c.142A>G | ENSP00000439840.1:p.Lys48Glu | |
| ENST00000631920.1:c.350A>G | ||
| ENST00000632676.1:c.142A>G | ENSP00000487639.1:p.Lys48Glu | |
| ENST00000634126.1:c.142A>G | ENSP00000488604.1:p.Lys48Glu | |
| NM_001276310.1:c.142A>G | NP_001263239.1:p.Lys48Glu | |
| NM_015894.3:c.175A>G | NP_056978.2:p.Lys59Glu | |
| NR_075070.1:n.440A>G | ||
| NM_015894.4:c.175A>G MANE Select | NP_056978.2:p.Lys59Glu | |
| NM_001276310.2:c.142A>G | NP_001263239.1:p.Lys48Glu | |
| NR_075070.2:n.254A>G |