Revel Score:
ENST00000546054
0.961
ENST00000370225 (MANE Select)
0.961
ENST00000536513
0.961
ENST00000535881
0.961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94007703G>A , CM000663.2:g.94007703G>A | GRCh38 |
| NC_000001.10:g.94473259G>A , CM000663.1:g.94473259G>A | GRCh37 |
| NC_000001.9:g.94245847G>A | NCBI36 |
| NG_009073.1:g.118447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5936C>T MANE Select | ENSP00000359245.3:p.Thr1979Ile | |
| ENST00000370225.3:c.5936C>T | ENSP00000359245.3:p.Thr1979Ile | |
| ENST00000465352.1:n.352C>T | ||
| ENST00000484388.1:n.50C>T | ||
| ENST00000536513.5:c.2312C>T | ENSP00000439707.2:p.Thr771Ile | |
| NM_000350.2:c.5936C>T | NP_000341.2:p.Thr1979Ile | |
| NM_000350.3:c.5936C>T MANE Select | NP_000341.2:p.Thr1979Ile |