Linked Data
ClinVar Variation Id:
412025
dbSNP Id:
rs368444006
ExAC:
7:91707149 C / T
gnomAD v2:
7-91707149-C-T
gnomAD v3:
7-92077835-C-T
gnomAD v4:
7-92077835-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92077835C>T , CM000669.2:g.92077835C>T | GRCh38 |
| NC_000007.13:g.91707149C>T , CM000669.1:g.91707149C>T | GRCh37 |
| NC_000007.12:g.91545085C>T | NCBI36 |
| NG_011623.1:g.141961C>T , LRG_331:g.141961C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.6905C>T MANE Select | ENSP00000348573.3:p.Thr2302Met | |
| ENST00000359028.7:c.6977C>T | ENSP00000351922.4:p.Thr2326Met | |
| ENST00000394534.7:c.398C>T | ENSP00000378042.3:p.Thr133Met | |
| ENST00000491695.2:c.1550C>T | ENSP00000494626.2:p.Thr517Met | |
| ENST00000674381.2:c.*6634C>T | ENSP00000501536.2:n.*6634C>T | |
| ENST00000679448.1:c.6881C>T | ENSP00000505889.1:p.Thr2294Met | |
| ENST00000679457.1:c.6881C>T | ENSP00000505450.1:p.Thr2294Met | |
| ENST00000679474.1:n.7103C>T | ||
| ENST00000679521.1:c.6851C>T | ENSP00000505456.1:p.Thr2284Met | |
| ENST00000679554.1:c.*6690C>T | ENSP00000506415.1:n.*6690C>T | |
| ENST00000679722.1:n.7127C>T | ||
| ENST00000679821.1:c.6647C>T | ENSP00000506040.1:p.Thr2216Met | |
| ENST00000680047.1:n.7103C>T | ||
| ENST00000680072.1:c.6728C>T | ENSP00000506581.1:p.Thr2243Met | |
| ENST00000680181.1:c.6812C>T | ENSP00000505548.1:p.Thr2271Met | |
| ENST00000680365.1:c.398C>T | ENSP00000506019.1:p.Thr133Met | |
| ENST00000680513.1:c.6764C>T | ENSP00000505284.1:p.Thr2255Met | |
| ENST00000680534.1:c.6944C>T | ENSP00000506674.1:p.Thr2315Met | |
| ENST00000680766.1:c.6881C>T | ENSP00000505204.1:p.Thr2294Met | |
| ENST00000680952.1:c.6881C>T | ENSP00000506407.1:p.Thr2294Met | |
| ENST00000681216.1:c.398C>T | ENSP00000505551.1:p.Thr133Met | |
| ENST00000681412.1:c.6905C>T | ENSP00000506486.1:p.Thr2302Met | |
| ENST00000681722.1:c.6881C>T | ENSP00000506566.1:p.Thr2294Met | |
| ENST00000356239.7:c.6905C>T | ENSP00000348573.3:p.Thr2302Met | |
| ENST00000358100.6:c.6764C>T | ENSP00000350813.3:p.Thr2255Met | |
| ENST00000359028.6:c.6938C>T | ENSP00000351922.3:p.Thr2313Met | |
| ENST00000394534.6:c.443C>T | ENSP00000378042.2:p.Thr148Met | |
| NM_005751.4:c.6905C>T , LRG_331t1:c.6905C>T | NP_005742.4:p.Thr2302Met | |
| NM_147185.2:c.6881C>T | NP_671714.1:p.Thr2294Met | |
| XM_006715827.1:c.6764C>T | XP_006715890.1:p.Thr2255Met | |
| XM_011515709.1:c.7052C>T | XP_011514011.1:p.Thr2351Met | |
| XM_011515710.1:c.7076C>T | XP_011514012.1:p.Thr2359Met | |
| XM_011515711.1:c.7016C>T | XP_011514013.1:p.Thr2339Met | |
| XM_011515712.1:c.7013C>T | XP_011514014.1:p.Thr2338Met | |
| XM_011515713.1:c.6998C>T | XP_011514015.1:p.Thr2333Met | |
| XM_011515714.1:c.7037C>T | XP_011514016.1:p.Thr2346Met | |
| XM_011515716.1:c.6956C>T | XP_011514018.1:p.Thr2319Met | |
| XM_011515717.1:c.6911C>T | XP_011514019.1:p.Thr2304Met | |
| XM_011515718.1:c.6941C>T | XP_011514020.1:p.Thr2314Met | |
| XM_011515719.1:c.6917C>T | XP_011514021.1:p.Thr2306Met | |
| XM_011515720.1:c.6800C>T | XP_011514022.1:p.Thr2267Met | |
| XM_011515721.1:c.1565C>T | XP_011514023.1:p.Thr522Met | |
| XM_011515722.1:c.1526C>T | XP_011514024.1:p.Thr509Met | |
| XM_017011642.2:c.7040C>T | XP_016867131.1:p.Thr2347Met | |
| XM_017011643.2:c.7001C>T | XP_016867132.1:p.Thr2334Met | |
| XM_017011644.2:c.7040C>T | XP_016867133.1:p.Thr2347Met | |
| XM_017011645.2:c.6986C>T | XP_016867134.1:p.Thr2329Met | |
| XM_017011646.2:c.7001C>T | XP_016867135.1:p.Thr2334Met | |
| XM_017011647.2:c.6947C>T | XP_016867136.1:p.Thr2316Met | |
| XM_017011648.2:c.6944C>T | XP_016867137.1:p.Thr2315Met | |
| XM_017011649.2:c.6977C>T | XP_016867138.1:p.Thr2326Met | |
| XM_017011650.2:c.6905C>T | XP_016867139.1:p.Thr2302Met | |
| XM_017011651.2:c.6899C>T | XP_016867140.1:p.Thr2300Met | |
| XM_017011652.2:c.7040C>T | XP_016867141.1:p.Thr2347Met | |
| XM_017011653.2:c.6812C>T | XP_016867142.1:p.Thr2271Met | |
| XM_017011654.2:c.6764C>T | XP_016867143.1:p.Thr2255Met | |
| XM_017011655.2:c.6668C>T | XP_016867144.1:p.Thr2223Met | |
| XM_017011656.2:c.6668C>T | XP_016867145.1:p.Thr2223Met | |
| XM_017011657.2:c.2705C>T | XP_016867146.1:p.Thr902Met | |
| XM_017011658.2:c.1589C>T | XP_016867147.1:p.Thr530Met | |
| XM_017011659.2:c.1550C>T | XP_016867148.1:p.Thr517Met | |
| XM_017011660.2:c.1550C>T | XP_016867149.1:p.Thr517Met | |
| XM_024446631.1:c.6803C>T | XP_024302399.1:p.Thr2268Met | |
| NM_147185.3:c.6881C>T | NP_671714.1:p.Thr2294Met | |
| NM_001379277.1:c.1550C>T | NP_001366206.1:p.Thr517Met | |
| NM_005751.5:c.6905C>T MANE Select | NP_005742.4:p.Thr2302Met |