Linked Data
ClinVar Variation Id:
991813
ClinVar RCV Id:
RCV001280087
dbSNP Id:
rs2040783201
COSMIC:
COSM2033036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259132T>C , CM000676.2:g.24259132T>C | GRCh38 |
| NC_000014.8:g.24728338T>C , CM000676.1:g.24728338T>C | GRCh37 |
| NC_000014.7:g.23798178T>C | NCBI36 |
| NG_007150.1:g.9035A>G | |
| NG_007150.2:g.9035A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1102A>G MANE Select | ENSP00000206765.6:p.Thr368Ala | |
| ENST00000206765.10:c.1102A>G | ENSP00000206765.6:p.Thr368Ala | |
| ENST00000544573.5:c.-28-744A>G | ENSP00000439446.1:n.-28-744A>G | |
| ENST00000559136.1:c.175A>G | ENSP00000453337.1:p.Thr59Ala | |
| NM_000359.2:c.1102A>G | NP_000350.1:p.Thr368Ala | |
| NM_000359.3:c.1102A>G MANE Select | NP_000350.1:p.Thr368Ala |