Linked Data
ClinVar Variation Id:
1357223
ClinVar RCV Id:
RCV001878253
dbSNP Id:
rs1839450295
gnomAD v4:
10-69382669-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69382669T>C , CM000672.2:g.69382669T>C | GRCh38 |
| NC_000010.10:g.71142425T>C , CM000672.1:g.71142425T>C | GRCh37 |
| NC_000010.9:g.70812431T>C | NCBI36 |
| NG_012077.1:g.117670T>C , LRG_365:g.117670T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.1448T>C | ENSP00000515580.1:p.Met483Thr | |
| ENST00000703945.1:c.1364T>C | ENSP00000515578.1:p.Met455Thr | |
| ENST00000703946.1:c.1265+2574T>C | ENSP00000515579.1:n.1265+2574T>C | |
| ENST00000703947.1:c.1058T>C | ENSP00000515581.1:p.Met353Thr | |
| ENST00000703948.1:c.*1065T>C | ENSP00000515582.1:n.*1065T>C | |
| ENST00000703949.1:c.1448T>C | ENSP00000515583.1:p.Met483Thr | |
| ENST00000703950.1:c.1448T>C | ENSP00000515584.1:p.Met483Thr | |
| ENST00000703951.1:c.1265+2574T>C | ENSP00000515585.1:n.1265+2574T>C | |
| ENST00000703952.1:c.1265+2574T>C | ENSP00000515586.1:n.1265+2574T>C | |
| ENST00000703953.1:c.*711T>C | ENSP00000515587.1:n.*711T>C | |
| ENST00000703954.1:c.1328T>C | ENSP00000515588.1:p.Met443Thr | |
| ENST00000703955.1:n.1998T>C | ||
| ENST00000298649.8:c.1445T>C | ENSP00000298649.3:p.Met482Thr | |
| ENST00000359426.7:c.1448T>C MANE Select | ENSP00000352398.6:p.Met483Thr | |
| ENST00000436817.6:c.1460T>C | ENSP00000415949.2:p.Met487Thr | |
| ENST00000493591.6:c.*1336T>C | ENSP00000494917.1:n.*1336T>C | |
| ENST00000643399.2:c.1460T>C MANE Plus Clinical | ENSP00000494664.1:p.Met487Thr | |
| ENST00000298649.7:c.1445T>C | ENSP00000298649.3:p.Met482Thr | |
| ENST00000359426.6:c.1448T>C | ENSP00000352398.6:p.Met483Thr | |
| ENST00000360289.6:c.1412T>C | ENSP00000353433.2:p.Met471Thr | |
| ENST00000448642.6:c.1460T>C | ENSP00000402103.3:p.Met487Thr | |
| ENST00000494253.1:n.1674T>C | ||
| NM_000188.2:c.1448T>C | NP_000179.2:p.Met483Thr | |
| NM_033496.2:c.1445T>C | NP_277031.1:p.Met482Thr | |
| NM_033497.2:c.1460T>C | NP_277032.1:p.Met487Thr | |
| NM_033498.2:c.1460T>C | NP_277033.1:p.Met487Thr | |
| NM_033500.2:c.1412T>C , LRG_365t1:c.1412T>C | NP_277035.2:p.Met471Thr | |
| XM_005269735.2:c.1577T>C | XP_005269792.1:p.Met526Thr | |
| XM_005269736.1:c.1460T>C | XP_005269793.1:p.Met487Thr | |
| XM_005269737.1:c.1364T>C | XP_005269794.1:p.Met455Thr | |
| XM_011539732.1:c.1412T>C | XP_011538034.1:p.Met471Thr | |
| XM_011539733.1:c.1406T>C | XP_011538035.1:p.Met469Thr | |
| XM_011539734.1:c.1403T>C | XP_011538036.1:p.Met468Thr | |
| NM_001322364.1:c.1460T>C | NP_001309293.1:p.Met487Thr | |
| NM_001322365.1:c.1553T>C | NP_001309294.1:p.Met518Thr | |
| NM_001322366.1:c.1364T>C | NP_001309295.1:p.Met455Thr | |
| NM_001322367.1:c.1352T>C | NP_001309296.1:p.Met451Thr | |
| NM_001358263.1:c.1460T>C MANE Plus Clinical | NP_001345192.1:p.Met487Thr | |
| XM_024447969.1:c.1460T>C | XP_024303737.1:p.Met487Thr | |
| NM_000188.3:c.1448T>C MANE Select | NP_000179.2:p.Met483Thr | |
| NM_001322364.2:c.1460T>C | NP_001309293.1:p.Met487Thr | |
| NM_001322365.2:c.1553T>C | NP_001309294.1:p.Met518Thr | |
| NM_033496.3:c.1445T>C | NP_277031.1:p.Met482Thr | |
| NM_033497.3:c.1460T>C | NP_277032.1:p.Met487Thr | |
| NM_033498.3:c.1460T>C | NP_277033.1:p.Met487Thr |