Revel Score:
ENST00000373960 (MANE Select)
0.866
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425732C>T , CM000664.2:g.219425732C>T | GRCh38 |
| NC_000002.11:g.220290454C>T , CM000664.1:g.220290454C>T | GRCh37 |
| NC_000002.10:g.219998698C>T | NCBI36 |
| NG_008043.1:g.12356C>T , LRG_380:g.12356C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.832C>T | ||
| ENST00000683013.1:n.746C>T | ||
| ENST00000373960.4:c.1358C>T MANE Select | ENSP00000363071.3:p.Thr453Ile | |
| ENST00000373960.3:c.1358C>T | ENSP00000363071.3:p.Thr453Ile | |
| ENST00000483395.1:n.213C>T | ||
| NM_001927.3:c.1358C>T , LRG_380t1:c.1358C>T | NP_001918.3:p.Thr453Ile | |
| NM_001927.4:c.1358C>T MANE Select | NP_001918.3:p.Thr453Ile | |
| NM_001382708.1:c.1355C>T | NP_001369637.1:p.Thr452Ile | |
| NM_001382709.1:c.926C>T | NP_001369638.1:p.Thr309Ile | |
| NM_001382710.1:c.1289C>T | NP_001369639.1:p.Thr430Ile | |
| NM_001382711.1:c.1337C>T | NP_001369640.1:p.Thr446Ile | |
| NM_001382712.1:c.1358C>T | NP_001369641.1:p.Thr453Ile | |
| NM_001382713.1:c.1088C>T | NP_001369642.1:p.Thr363Ile |