Revel Score:
ENST00000155840 (MANE Select)
0.821
ENST00000335475
0.821
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2777000T>C , CM000673.2:g.2777000T>C | GRCh38 |
| NC_000011.9:g.2798230T>C , CM000673.1:g.2798230T>C | GRCh37 |
| NC_000011.8:g.2754806T>C | NCBI36 |
| NG_008935.1:g.337010T>C , LRG_287:g.337010T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1343T>C | ENSP00000434560.2:p.Ile448Thr | |
| ENST00000646564.2:c.1160T>C | ENSP00000495806.2:p.Ile387Thr | |
| ENST00000155840.12:c.1700T>C MANE Select | ENSP00000155840.2:p.Ile567Thr | |
| ENST00000335475.6:c.1319T>C | ENSP00000334497.5:p.Ile440Thr | |
| ENST00000646564.1:c.806T>C | ENSP00000495806.1:p.Ile269Thr | |
| ENST00000155840.9:c.1700T>C | ENSP00000155840.2:p.Ile567Thr | |
| ENST00000335475.5:c.1319T>C | ENSP00000334497.5:p.Ile440Thr | |
| NM_000218.2:c.1700T>C , LRG_287t1:c.1700T>C | NP_000209.2:p.Ile567Thr | |
| NM_181798.1:c.1319T>C , LRG_287t2:c.1319T>C | NP_861463.1:p.Ile440Thr | |
| NM_000218.3:c.1700T>C MANE Select | NP_000209.2:p.Ile567Thr |