Revel Score:
ENST00000404648
0.889
ENST00000405164
0.889
ENST00000336098 (MANE Select)
0.889
ENST00000407946
0.889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154606767T>A , CM000666.2:g.154606767T>A | GRCh38 |
| NC_000004.11:g.155527919T>A , CM000666.1:g.155527919T>A | GRCh37 |
| NC_000004.10:g.155747369T>A | NCBI36 |
| NG_008834.1:g.10984A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1067A>T MANE Select | ENSP00000336829.3:p.Asp356Val | |
| ENST00000336098.7:c.1067A>T | ENSP00000336829.3:p.Asp356Val | |
| ENST00000404648.7:c.1067A>T | ENSP00000384860.3:p.Asp356Val | |
| ENST00000405164.5:c.1091A>T | ENSP00000384101.1:p.Asp364Val | |
| ENST00000407946.5:c.1091A>T | ENSP00000384552.1:p.Asp364Val | |
| ENST00000465913.1:n.615A>T | ||
| ENST00000492082.5:n.1609A>T | ||
| NM_000509.4:c.1067A>T | NP_000500.2:p.Asp356Val | |
| NM_000509.5:c.1067A>T | NP_000500.2:p.Asp356Val | |
| NM_021870.2:c.1067A>T | NP_068656.2:p.Asp356Val | |
| NM_021870.3:c.1067A>T MANE Select | NP_068656.2:p.Asp356Val | |
| NM_000509.6:c.1067A>T | NP_000500.2:p.Asp356Val |