COSMIC:
COSM445196 (not active)
Revel Score:
ENST00000262795
0.037
ENST00000445220
0.037
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51437219 (NFE)
Genomes Max Group AF
0.51437564 (NFE)
Exomes Max Group AF
0.51412311 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50679152T>C , CM000684.2:g.50679152T>C | GRCh38 |
| NC_000022.10:g.51117580T>C , CM000684.1:g.51117580T>C | GRCh37 |
| NC_000022.9:g.49464446T>C | NCBI36 |
| NG_008607.2:g.9511T>C | |
| NG_070230.1:g.14917T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.377T>C | ENSP00000489147.2:p.Ile126Thr | |
| ENST00000414786.7:n.961T>C | ||
| ENST00000673971.2:c.734T>C | ENSP00000501192.1:p.Ile245Thr | |
| ENST00000691768.1:n.697T>C | ||
| ENST00000692848.1:c.734T>C | ENSP00000510794.1:p.Ile245Thr | |
| ENST00000262795.6:c.377T>C | ENSP00000489147.2:p.Ile126Thr | |
| ENST00000673971.1:c.734T>C | ENSP00000501192.1:p.Ile245Thr | |
| ENST00000262795.5:c.734T>C | ENSP00000489147.1:p.Ile245Thr | |
| ENST00000414786.6:n.961T>C | ||
| ENST00000445220.5:c.734T>C | ENSP00000489407.1:p.Ile245Thr | |
| NM_033517.1:c.734T>C | NP_277052.1:p.Ile245Thr | |
| NM_001372044.1:c.959T>C | NP_001358973.1:p.Ile320Thr | |
| NM_001372044.2:c.959T>C MANE Select | NP_001358973.1:p.Ile320Thr |