Linked Data
ClinVar Variation Id:
214793
ClinVar RCV Id:
RCV002271455
dbSNP Id:
rs150667550
ExAC:
1:161180389 T / C
gnomAD v2:
1-161180389-T-C
gnomAD v3:
1-161210599-T-C
gnomAD v4:
1-161210599-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161210599T>C , CM000663.2:g.161210599T>C | GRCh38 |
| NC_000001.10:g.161180389T>C , CM000663.1:g.161180389T>C | GRCh37 |
| NC_000001.9:g.159447013T>C | NCBI36 |
| NG_013352.1:g.16285T>C | |
| NG_029043.1:g.303T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392179.5:c.875T>C | ENSP00000376018.4:p.Met292Thr | |
| ENST00000465923.6:n.526T>C | ||
| ENST00000467295.6:n.1403T>C | ||
| ENST00000468828.6:n.702T>C | ||
| ENST00000480762.6:n.1105T>C | ||
| ENST00000483804.6:n.387T>C | ||
| ENST00000493849.6:n.1730T>C | ||
| ENST00000496553.6:n.1614T>C | ||
| ENST00000676535.1:n.1357T>C | ||
| ENST00000676583.1:c.*250T>C | ENSP00000503681.1:n.*250T>C | |
| ENST00000676600.1:c.875T>C | ENSP00000503989.1:p.Met292Thr | |
| ENST00000676653.1:n.1631T>C | ||
| ENST00000676726.1:n.1304T>C | ||
| ENST00000676770.1:n.1741T>C | ||
| ENST00000676795.1:c.*457T>C | ENSP00000504650.1:n.*457T>C | |
| ENST00000676871.1:n.1414T>C | ||
| ENST00000676972.1:c.875T>C MANE Select | ENSP00000503117.1:p.Met292Thr | |
| ENST00000676991.1:n.1595T>C | ||
| ENST00000677033.1:n.1944T>C | ||
| ENST00000677045.1:c.*546T>C | ENSP00000504168.1:n.*546T>C | |
| ENST00000677050.1:n.1529T>C | ||
| ENST00000677063.1:c.*546T>C | ENSP00000504572.1:n.*546T>C | |
| ENST00000677081.1:c.875T>C | ENSP00000503728.1:p.Met292Thr | |
| ENST00000677089.1:n.789T>C | ||
| ENST00000677103.1:n.1340T>C | ||
| ENST00000677138.1:c.875T>C | ENSP00000504839.1:p.Met292Thr | |
| ENST00000677178.1:n.1178T>C | ||
| ENST00000677231.1:c.797T>C | ENSP00000503378.1:p.Met266Thr | |
| ENST00000677336.1:n.1229T>C | ||
| ENST00000677350.1:n.1673T>C | ||
| ENST00000677358.1:n.968T>C | ||
| ENST00000677383.1:n.1494T>C | ||
| ENST00000677453.1:c.875T>C | ENSP00000503604.1:p.Met292Thr | |
| ENST00000677457.1:c.875T>C | ENSP00000503294.1:p.Met292Thr | |
| ENST00000677471.1:n.1229T>C | ||
| ENST00000677495.1:n.1235T>C | ||
| ENST00000677547.1:c.711T>C | ENSP00000504269.1:p.Asp237= | |
| ENST00000677550.1:c.875T>C | ENSP00000503353.1:p.Met292Thr | |
| ENST00000677577.1:n.1730T>C | ||
| ENST00000677579.1:c.875T>C | ENSP00000504162.1:p.Met292Thr | |
| ENST00000677613.1:c.875T>C | ENSP00000504258.1:p.Met292Thr | |
| ENST00000677643.1:n.1284T>C | ||
| ENST00000677653.1:c.*250T>C | ENSP00000504542.1:n.*250T>C | |
| ENST00000677657.1:n.1414T>C | ||
| ENST00000677736.1:n.1529T>C | ||
| ENST00000677745.1:n.789T>C | ||
| ENST00000677807.1:n.1494T>C | ||
| ENST00000677809.1:n.1673T>C | ||
| ENST00000677837.1:c.*546T>C | ENSP00000503661.1:n.*546T>C | |
| ENST00000677846.1:c.875T>C | ENSP00000504065.1:p.Met292Thr | |
| ENST00000677916.1:n.1414T>C | ||
| ENST00000677925.1:n.1494T>C | ||
| ENST00000677948.1:c.*560T>C | ENSP00000503510.1:n.*560T>C | |
| ENST00000678052.1:n.1357T>C | ||
| ENST00000678068.1:n.2606T>C | ||
| ENST00000678130.1:n.1586T>C | ||
| ENST00000678328.1:n.1730T>C | ||
| ENST00000678356.1:n.2051T>C | ||
| ENST00000678484.1:n.1730T>C | ||
| ENST00000678492.1:n.1494T>C | ||
| ENST00000678507.1:c.875T>C | ENSP00000504199.1:p.Met292Thr | |
| ENST00000678511.1:c.875T>C | ENSP00000504846.1:p.Met292Thr | |
| ENST00000678532.1:c.*560T>C | ENSP00000504682.1:n.*560T>C | |
| ENST00000678559.1:c.*669T>C | ENSP00000504285.1:n.*669T>C | |
| ENST00000678605.1:c.875T>C | ENSP00000503969.1:p.Met292Thr | |
| ENST00000678613.1:n.1494T>C | ||
| ENST00000678648.1:n.1545T>C | ||
| ENST00000678783.1:c.800T>C | ENSP00000504215.1:p.Met267Thr | |
| ENST00000678793.1:c.875T>C | ENSP00000503431.1:p.Met292Thr | |
| ENST00000678850.1:n.1235T>C | ||
| ENST00000678880.1:c.*546T>C | ENSP00000503015.1:n.*546T>C | |
| ENST00000678911.1:c.797T>C | ENSP00000503946.1:p.Met266Thr | |
| ENST00000678966.1:n.1293T>C | ||
| ENST00000678982.1:c.*546T>C | ENSP00000504597.1:n.*546T>C | |
| ENST00000679064.1:c.875T>C | ENSP00000502868.1:p.Met292Thr | |
| ENST00000679071.1:n.1407T>C | ||
| ENST00000679142.1:c.975T>C | ENSP00000504800.1:n.975T>C | |
| ENST00000679169.1:c.*546T>C | ENSP00000504096.1:n.*546T>C | |
| ENST00000679176.1:c.875T>C | ENSP00000504170.1:p.Met292Thr | |
| ENST00000679215.1:n.1178T>C | ||
| ENST00000679218.1:c.926T>C | ENSP00000504577.1:p.Met309Thr | |
| ENST00000679239.1:c.*250T>C | ENSP00000504555.1:n.*250T>C | |
| ENST00000679282.1:c.875T>C | ENSP00000504533.1:p.Met292Thr | |
| ENST00000367993.7:c.875T>C | ENSP00000356972.3:p.Met292Thr | |
| ENST00000392179.4:c.875T>C | ENSP00000376018.4:p.Met292Thr | |
| ENST00000465923.5:n.240T>C | ||
| ENST00000467295.5:n.963T>C | ||
| ENST00000480762.5:n.677T>C | ||
| ENST00000483804.5:n.436T>C | ||
| NM_001166159.1:c.875T>C | NP_001159631.1:p.Met292Thr | |
| NM_004550.4:c.875T>C | NP_004541.1:p.Met292Thr | |
| XM_005245208.1:c.875T>C | XP_005245265.1:p.Met292Thr | |
| XM_005245209.1:c.581T>C | XP_005245266.1:p.Met194Thr | |
| XM_005245209.2:c.581T>C | XP_005245266.1:p.Met194Thr | |
| NM_001166159.2:c.875T>C | NP_001159631.1:p.Met292Thr | |
| NM_001377298.1:c.875T>C | NP_001364227.1:p.Met292Thr | |
| NM_001377299.1:c.875T>C MANE Select | NP_001364228.1:p.Met292Thr | |
| NM_001377300.1:c.875T>C | NP_001364229.1:p.Met292Thr | |
| NM_001377301.1:c.875T>C | NP_001364230.1:p.Met292Thr | |
| NM_001377302.1:c.875T>C | NP_001364231.1:p.Met292Thr | |
| NR_165188.1:n.894T>C | ||
| NM_004550.5:c.875T>C | NP_004541.1:p.Met292Thr |