Revel Score:
ENST00000326245 (MANE Select)
0.028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882169T>G , CM000663.2:g.160882169T>G | GRCh38 |
| NC_000001.10:g.160851959T>G , CM000663.1:g.160851959T>G | GRCh37 |
| NC_000001.9:g.159118583T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.193A>C MANE Select | ENSP00000323587.3:p.Ile65Leu | |
| ENST00000326245.3:c.193A>C | ENSP00000323587.3:p.Ile65Leu | |
| ENST00000464077.1:n.127A>C | ||
| NM_017625.2:c.193A>C | NP_060095.2:p.Ile65Leu | |
| NM_017625.3:c.193A>C MANE Select | NP_060095.2:p.Ile65Leu |