Revel Score:
ENST00000536262 (MANE Select)
0.865
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101195099G>A , CM000674.2:g.101195099G>A | GRCh38 |
| NC_000012.11:g.101588877G>A , CM000674.1:g.101588877G>A | GRCh37 |
| NC_000012.10:g.100113008G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536262.3:c.533C>T MANE Select | ENSP00000445340.2:p.Thr178Ile | |
| ENST00000536262.2:c.533C>T | ENSP00000445340.2:p.Thr178Ile | |
| NM_145913.3:c.533C>T | NP_666018.3:p.Thr178Ile | |
| XR_944503.1:n.959C>T | ||
| NM_145913.4:c.533C>T | NP_666018.3:p.Thr178Ile | |
| XM_017018910.2:c.533C>T | XP_016874399.1:p.Thr178Ile | |
| XR_944503.3:n.585C>T | ||
| NM_145913.5:c.533C>T MANE Select | NP_666018.3:p.Thr178Ile |