Revel Score:
ENST00000350028 (MANE Select)
0.287
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43972242A>T , CM000684.2:g.43972242A>T | GRCh38 |
| NC_000022.10:g.44368122A>T , CM000684.1:g.44368122A>T | GRCh37 |
| NC_000022.9:g.42699455A>T | NCBI36 |
| NG_029057.1:g.21862A>T | |
| NG_029057.2:g.21862A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350028.5:c.329A>T MANE Select | ENSP00000345445.4:p.Asp110Val | |
| ENST00000350028.4:c.329A>T | ENSP00000345445.4:p.Asp110Val | |
| ENST00000493161.1:n.511A>T | ||
| NM_015380.4:c.329A>T | NP_056195.3:p.Asp110Val | |
| NM_015380.5:c.329A>T MANE Select | NP_056195.3:p.Asp110Val |