Linked Data
dbSNP Id:
rs751932589
ExAC:
11:32413587 T / C
gnomAD v3:
11-32392041-T-C
gnomAD v4:
11-32392041-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392041T>C , CM000673.2:g.32392041T>C | GRCh38 |
| NC_000011.9:g.32413587T>C , CM000673.1:g.32413587T>C | GRCh37 |
| NC_000011.8:g.32370163T>C | NCBI36 |
| NG_009272.1:g.48501A>G , LRG_525:g.48501A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1327A>G | ENSP00000331327.5:p.Thr443Ala | |
| ENST00000379077.9:c.*562A>G | ENSP00000368368.5:n.*562A>G | |
| ENST00000379079.8:c.727A>G | ENSP00000368370.2:p.Thr243Ala | |
| ENST00000448076.9:c.1378A>G | ENSP00000413452.5:p.Thr460Ala | |
| ENST00000452863.10:c.1378A>G MANE Select | ENSP00000415516.5:p.Thr460Ala | |
| ENST00000526685.2:n.832A>G | ||
| ENST00000639563.3:c.1327A>G | ENSP00000492269.3:p.Thr443Ala | |
| ENST00000639907.2:n.521A>G | ||
| ENST00000640146.2:c.703A>G | ENSP00000491984.2:p.Thr235Ala | |
| ENST00000650745.1:n.1188A>G | ||
| ENST00000650861.1:n.1959A>G | ||
| ENST00000650986.1:n.41A>G | ||
| ENST00000651459.1:c.149A>G | ||
| ENST00000651533.1:n.424A>G | ||
| ENST00000651668.1:n.315A>G | ||
| ENST00000651794.1:n.1221A>G | ||
| ENST00000651819.1:n.303A>G | ||
| ENST00000652579.1:n.638A>G | ||
| ENST00000652724.1:n.568A>G | ||
| ENST00000332351.7:c.1363A>G | ENSP00000331327.3:p.Thr455Ala | |
| ENST00000379077.7:c.*562A>G | ENSP00000368368.3:n.*562A>G | |
| ENST00000379079.6:c.727A>G | ENSP00000368370.2:p.Thr243Ala | |
| ENST00000448076.7:c.1363A>G | ENSP00000413452.3:p.Thr455Ala | |
| ENST00000452863.7:c.1312A>G | ENSP00000415516.3:p.Thr438Ala | |
| ENST00000527882.5:c.344A>G | ||
| ENST00000530998.5:c.676A>G | ENSP00000435307.1:p.Thr226Ala | |
| NM_000378.4:c.1312A>G | NP_000369.3:p.Thr438Ala | |
| NM_001198551.1:c.727A>G , LRG_525t2:c.727A>G | NP_001185480.1:p.Thr243Ala | |
| NM_001198552.1:c.676A>G | NP_001185481.1:p.Thr226Ala | |
| NM_024424.3:c.1363A>G | NP_077742.2:p.Thr455Ala | |
| NM_024426.4:c.1363A>G | NP_077744.3:p.Thr455Ala | |
| NM_000378.5:c.1327A>G | NP_000369.4:p.Thr443Ala | |
| NM_024424.4:c.1378A>G | NP_077742.3:p.Thr460Ala | |
| NM_024426.5:c.1378A>G | NP_077744.4:p.Thr460Ala | |
| NM_001367854.1:c.190A>G | NP_001354783.1:p.Thr64Ala | |
| NR_160306.1:n.1710A>G | ||
| NM_000378.6:c.1327A>G | NP_000369.4:p.Thr443Ala | |
| NM_001198552.2:c.676A>G | NP_001185481.1:p.Thr226Ala | |
| NM_024424.5:c.1378A>G | NP_077742.3:p.Thr460Ala | |
| NM_024426.6:c.1378A>G MANE Select | NP_077744.4:p.Thr460Ala |