Linked Data
ClinVar Variation Id:
99801
dbSNP Id:
rs8069375
ExAC:
17:6331762 G / A
gnomAD v2:
17-6331762-G-A
gnomAD v3:
17-6428442-G-A
gnomAD v4:
17-6428442-G-A
COSMIC:
COSM4130504
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6428442G>A , CM000679.2:g.6428442G>A | GRCh38 |
| NC_000017.10:g.6331762G>A , CM000679.1:g.6331762G>A | GRCh37 |
| NC_000017.9:g.6272486G>A | NCBI36 |
| NG_008474.1:g.11758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.341C>T MANE Select | ENSP00000370521.3:p.Thr114Ile | |
| ENST00000250087.9:c.277-1385C>T | ENSP00000250087.5:n.277-1385C>T | |
| ENST00000381128.2:c.*213C>T | ENSP00000370520.2:n.*213C>T | |
| ENST00000381129.7:c.341C>T | ENSP00000370521.3:p.Thr114Ile | |
| ENST00000570466.5:c.275C>T | ENSP00000461287.1:p.Thr92Ile | |
| ENST00000570584.5:c.251+5477C>T | ||
| ENST00000571740.5:c.341C>T | ENSP00000460134.1:p.Thr114Ile | |
| ENST00000574506.5:c.305C>T | ENSP00000458456.1:p.Thr102Ile | |
| ENST00000574913.1:c.341C>T | ENSP00000460672.1:p.Thr114Ile | |
| ENST00000575265.5:c.341C>T | ENSP00000459673.1:p.Thr114Ile | |
| ENST00000576307.5:c.161C>T | ENSP00000459522.1:p.Thr54Ile | |
| ENST00000576776.5:c.341C>T | ENSP00000460827.1:p.Thr114Ile | |
| ENST00000621374.4:c.341C>T | ENSP00000481337.1:p.Thr114Ile | |
| NM_001033054.2:c.277-1385C>T | NP_001028226.1:n.277-1385C>T | |
| NM_001033055.2:c.161C>T | NP_001028227.1:p.Thr54Ile | |
| NM_001285399.2:c.305C>T | NP_001272328.1:p.Thr102Ile | |
| NM_001285400.2:c.275C>T | NP_001272329.1:p.Thr92Ile | |
| NM_001285401.2:c.341C>T | NP_001272330.1:p.Thr114Ile | |
| NM_001285402.1:c.224C>T | NP_001272331.1:p.Thr75Ile | |
| NM_001285403.2:c.341C>T | NP_001272332.1:p.Thr114Ile | |
| NM_014336.4:c.341C>T | NP_055151.3:p.Thr114Ile | |
| NM_001033054.3:c.277-1385C>T | NP_001028226.1:n.277-1385C>T | |
| NM_001033055.3:c.161C>T | NP_001028227.1:p.Thr54Ile | |
| NM_001285399.3:c.305C>T | NP_001272328.1:p.Thr102Ile | |
| NM_001285400.3:c.275C>T | NP_001272329.1:p.Thr92Ile | |
| NM_001285401.3:c.341C>T | NP_001272330.1:p.Thr114Ile | |
| NM_001285402.2:c.224C>T | NP_001272331.1:p.Thr75Ile | |
| NM_001285403.3:c.341C>T | NP_001272332.1:p.Thr114Ile | |
| NM_014336.5:c.341C>T MANE Select | NP_055151.3:p.Thr114Ile | |
| NM_001285403.4:c.341C>T | NP_001272332.1:p.Thr114Ile |