Revel Score:
ENST00000367698 (MANE Select)
0.931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173910756T>C , CM000663.2:g.173910756T>C | GRCh38 |
| NC_000001.10:g.173879894T>C , CM000663.1:g.173879894T>C | GRCh37 |
| NC_000001.9:g.172146517T>C | NCBI36 |
| NG_012462.1:g.11623A>G , LRG_577:g.11623A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.760A>G MANE Select | ENSP00000356671.3:p.Lys254Glu | |
| ENST00000367698.3:c.760A>G | ENSP00000356671.3:p.Lys254Glu | |
| ENST00000487183.1:n.411A>G | ||
| ENST00000617423.4:c.559+1108A>G | ENSP00000478688.1:n.559+1108A>G | |
| NM_000488.3:c.760A>G , LRG_577t1:c.760A>G | NP_000479.1:p.Lys254Glu | |
| XM_005245198.2:c.616A>G | XP_005245255.1:p.Lys206Glu | |
| NM_001365052.1:c.616A>G | NP_001351981.1:p.Lys206Glu | |
| NM_000488.4:c.760A>G MANE Select | NP_000479.1:p.Lys254Glu | |
| NM_001365052.2:c.616A>G | NP_001351981.1:p.Lys206Glu | |
| NM_001386302.1:c.760A>G | NP_001373231.1:p.Lys254Glu | |
| NM_001386303.1:c.841A>G | NP_001373232.1:p.Lys281Glu | |
| NM_001386304.1:c.741+19A>G | NP_001373233.1:n.741+19A>G | |
| NM_001386305.1:c.760A>G | NP_001373234.1:p.Lys254Glu | |
| NM_001386306.1:c.544A>G | NP_001373235.1:p.Lys182Glu |