Revel Score:
ENST00000373960 (MANE Select)
0.770
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425699C>T , CM000664.2:g.219425699C>T | GRCh38 |
| NC_000002.11:g.220290421C>T , CM000664.1:g.220290421C>T | GRCh37 |
| NC_000002.10:g.219998665C>T | NCBI36 |
| NG_008043.1:g.12323C>T , LRG_380:g.12323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.799C>T | ||
| ENST00000683013.1:n.713C>T | ||
| ENST00000373960.4:c.1325C>T MANE Select | ENSP00000363071.3:p.Thr442Ile | |
| ENST00000373960.3:c.1325C>T | ENSP00000363071.3:p.Thr442Ile | |
| ENST00000483395.1:n.180C>T | ||
| NM_001927.3:c.1325C>T , LRG_380t1:c.1325C>T | NP_001918.3:p.Thr442Ile | |
| NM_001927.4:c.1325C>T MANE Select | NP_001918.3:p.Thr442Ile | |
| NM_001382708.1:c.1322C>T | NP_001369637.1:p.Thr441Ile | |
| NM_001382709.1:c.893C>T | NP_001369638.1:p.Thr298Ile | |
| NM_001382710.1:c.1256C>T | NP_001369639.1:p.Thr419Ile | |
| NM_001382711.1:c.1304C>T | NP_001369640.1:p.Thr435Ile | |
| NM_001382712.1:c.1325C>T | NP_001369641.1:p.Thr442Ile | |
| NM_001382713.1:c.1055C>T | NP_001369642.1:p.Thr352Ile |