Linked Data
ClinVar Variation Id:
472990
dbSNP Id:
rs147372931
ExAC:
5:140054277 G / A
gnomAD v2:
5-140054277-G-A
gnomAD v3:
5-140674692-G-A
gnomAD v4:
5-140674692-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140674692G>A , CM000667.2:g.140674692G>A | GRCh38 |
| NC_000005.9:g.140054277G>A , CM000667.1:g.140054277G>A | GRCh37 |
| NC_000005.8:g.140034461G>A | NCBI36 |
| NG_032158.1:g.21695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.1103C>T | ENSP00000393244.2:p.Thr368Met | |
| ENST00000504156.7:c.1445C>T MANE Select | ENSP00000425634.1:p.Thr482Met | |
| ENST00000506579.6:n.4190C>T | ||
| ENST00000507746.7:c.1445C>T | ENSP00000425889.2:p.Thr482Met | |
| ENST00000509087.2:c.431C>T | ENSP00000502781.1:p.Thr144Met | |
| ENST00000512396.6:c.*1384C>T | ENSP00000421576.1:n.*1384C>T | |
| ENST00000643686.1:c.*1500C>T | ENSP00000493611.1:n.*1500C>T | |
| ENST00000645491.1:c.*1378C>T | ENSP00000494297.1:n.*1378C>T | |
| ENST00000646229.1:c.1496C>T | ||
| ENST00000674523.1:c.*735C>T | ENSP00000501816.1:n.*735C>T | |
| ENST00000675094.1:n.2542C>T | ||
| ENST00000675204.1:c.1445C>T | ENSP00000501643.1:p.Thr482Met | |
| ENST00000675355.1:n.1230C>T | ||
| ENST00000675366.1:c.1328C>T | ENSP00000501747.1:p.Thr443Met | |
| ENST00000675698.1:c.1238C>T | ENSP00000501581.1:p.Thr413Met | |
| ENST00000675763.1:n.3352C>T | ||
| ENST00000675827.1:c.*538C>T | ENSP00000501900.1:n.*538C>T | |
| ENST00000675851.1:c.1115C>T | ENSP00000502624.1:p.Thr372Met | |
| ENST00000675898.1:n.3263C>T | ||
| ENST00000675967.1:n.3059C>T | ||
| ENST00000676327.1:c.1337C>T | ENSP00000502594.1:p.Thr446Met | |
| ENST00000307633.7:c.1265C>T | ENSP00000304668.3:p.Thr422Met | |
| ENST00000415192.6:c.1223C>T | ENSP00000411085.2:p.Thr408Met | |
| ENST00000431330.6:c.1103C>T | ENSP00000393244.2:p.Thr368Met | |
| ENST00000438307.6:c.1325C>T | ENSP00000411511.2:p.Thr442Met | |
| ENST00000457527.6:c.1385C>T | ENSP00000387893.2:p.Thr462Met | |
| ENST00000504156.5:c.1445C>T | ENSP00000425634.1:p.Thr482Met | |
| ENST00000504366.5:c.1238C>T | ENSP00000430063.1:p.Thr413Met | |
| ENST00000509087.1:n.451C>T | ||
| NM_001258040.2:c.1325C>T | NP_001244969.1:p.Thr442Met | |
| NM_001258041.2:c.1385C>T | NP_001244970.1:p.Thr462Met | |
| NM_001258042.2:c.1265C>T | NP_001244971.1:p.Thr422Met | |
| NM_001289092.1:c.1223C>T | NP_001276021.1:p.Thr408Met | |
| NM_001289093.1:c.1103C>T | NP_001276022.1:p.Thr368Met | |
| NM_001289094.1:c.1358C>T | NP_001276023.1:p.Thr453Met | |
| NM_002109.5:c.1445C>T | NP_002100.2:p.Thr482Met | |
| NM_002109.6:c.1445C>T MANE Select | NP_002100.2:p.Thr482Met | |
| NM_001258040.3:c.1325C>T | NP_001244969.1:p.Thr442Met | |
| NM_001258041.3:c.1385C>T | NP_001244970.1:p.Thr462Met | |
| NM_001258042.3:c.1265C>T | NP_001244971.1:p.Thr422Met | |
| NM_001289092.2:c.1223C>T | NP_001276021.1:p.Thr408Met | |
| NM_001289093.2:c.1103C>T | NP_001276022.1:p.Thr368Met | |
| NM_001289094.2:c.1358C>T | NP_001276023.1:p.Thr453Met |