COSMIC:
COSM1131316 (not active)
Revel Score:
ENST00000506883
0.070
ENST00000511045
0.070
ENST00000457717
0.070
ENST00000265517 (MANE Select)
0.070
ENST00000422897
0.070
ENST00000538053
0.070
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33900245 (MID)
Genomes Max Group AF
0.33319018 (SAS)
Exomes Max Group AF
0.33942742 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99583507T>C , CM000666.2:g.99583507T>C | GRCh38 |
| NC_000004.11:g.100504664T>C , CM000666.1:g.100504664T>C | GRCh37 |
| NC_000004.10:g.100723687T>C | NCBI36 |
| NG_011469.1:g.24425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.383T>C MANE Select | ENSP00000265517.5:p.Ile128Thr | |
| ENST00000457717.6:c.383T>C | ENSP00000400821.1:p.Ile128Thr | |
| ENST00000511045.6:c.134T>C | ENSP00000427679.2:p.Ile45Thr | |
| ENST00000265517.9:c.383T>C | ENSP00000265517.5:p.Ile128Thr | |
| ENST00000422897.6:c.383T>C | ENSP00000407350.2:p.Ile128Thr | |
| ENST00000457717.5:c.383T>C | ENSP00000400821.1:p.Ile128Thr | |
| ENST00000506883.5:c.413T>C | ENSP00000426755.1:p.Ile138Thr | |
| ENST00000511045.5:c.464T>C | ENSP00000427679.1:p.Ile155Thr | |
| ENST00000619629.1:c.383T>C | ENSP00000482850.1:p.Ile128Thr | |
| NM_000253.3:c.383T>C | NP_000244.2:p.Ile128Thr | |
| NM_001300785.1:c.464T>C | NP_001287714.1:p.Ile155Thr | |
| NM_000253.4:c.383T>C | NP_000244.2:p.Ile128Thr | |
| NM_001300785.2:c.134T>C | NP_001287714.2:p.Ile45Thr | |
| NM_001386140.1:c.383T>C MANE Select | NP_001373069.1:p.Ile128Thr |