Linked Data
ClinVar Variation Id:
216681
dbSNP Id:
rs200970494
ExAC:
6:110146311 C / T
gnomAD v2:
6-110146311-C-T
gnomAD v3:
6-109825108-C-T
gnomAD v4:
6-109825108-C-T
COSMIC:
COSM3857433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109825108C>T , CM000668.2:g.109825108C>T | GRCh38 |
| NC_000006.11:g.110146311C>T , CM000668.1:g.110146311C>T | GRCh37 |
| NC_000006.10:g.110253004C>T | NCBI36 |
| NG_007977.1:g.138888C>T , LRG_241:g.138888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2567C>T MANE Select | ENSP00000230124.4:p.Ser856Leu | |
| ENST00000415980.2:c.1073C>T | ENSP00000405660.2:p.Ser358Leu | |
| ENST00000674532.1:n.5763C>T | ||
| ENST00000674557.1:c.*1860C>T | ENSP00000501608.1:n.*1860C>T | |
| ENST00000674569.1:c.*1686C>T | ENSP00000502769.1:n.*1686C>T | |
| ENST00000674571.1:c.*1711C>T | ENSP00000501633.1:n.*1711C>T | |
| ENST00000674573.1:n.999C>T | ||
| ENST00000674575.1:c.*1686C>T | ENSP00000502276.1:n.*1686C>T | |
| ENST00000674641.1:c.2222C>T | ENSP00000501609.1:p.Ser741Leu | |
| ENST00000674649.1:c.*2260C>T | ENSP00000501669.1:n.*2260C>T | |
| ENST00000674657.1:c.*1999C>T | ENSP00000502314.1:n.*1999C>T | |
| ENST00000674744.1:c.2561C>T | ENSP00000501661.1:p.Ser854Leu | |
| ENST00000674778.1:c.*1785C>T | ENSP00000502742.1:n.*1785C>T | |
| ENST00000674783.1:c.*1482C>T | ENSP00000502755.1:n.*1482C>T | |
| ENST00000674884.1:c.2585C>T | ENSP00000502668.1:p.Ser862Leu | |
| ENST00000674930.1:c.*1605C>T | ENSP00000502657.1:n.*1605C>T | |
| ENST00000674933.1:c.2249C>T | ENSP00000502376.1:p.Ser750Leu | |
| ENST00000674956.1:c.*1781C>T | ENSP00000501904.1:n.*1781C>T | |
| ENST00000675004.1:c.*2432C>T | ENSP00000501868.1:n.*2432C>T | |
| ENST00000675009.1:c.*1951C>T | ENSP00000502098.1:n.*1951C>T | |
| ENST00000675096.1:c.2360C>T | ENSP00000502116.1:p.Ser787Leu | |
| ENST00000675122.1:c.*674C>T | ENSP00000501810.1:n.*674C>T | |
| ENST00000675153.1:c.*1284C>T | ENSP00000501682.1:n.*1284C>T | |
| ENST00000675272.1:n.6865C>T | ||
| ENST00000675301.1:n.1224C>T | ||
| ENST00000675311.1:c.*1769C>T | ENSP00000501961.1:n.*1769C>T | |
| ENST00000675426.1:c.*1635C>T | ENSP00000501819.1:n.*1635C>T | |
| ENST00000675523.1:c.2336C>T | ENSP00000502384.1:p.Ser779Leu | |
| ENST00000675552.1:c.*4830C>T | ENSP00000502197.1:n.*4830C>T | |
| ENST00000675726.1:c.2480C>T | ENSP00000502452.1:p.Ser827Leu | |
| ENST00000675772.1:c.2546+28257C>T | ENSP00000501678.1:n.2546+28257C>T | |
| ENST00000675831.1:c.2174C>T | ENSP00000502382.1:p.Ser725Leu | |
| ENST00000675849.1:n.2189C>T | ||
| ENST00000675879.1:c.1412C>T | ||
| ENST00000675954.1:n.3900C>T | ||
| ENST00000675991.1:c.*4394C>T | ENSP00000502162.1:n.*4394C>T | |
| ENST00000675994.1:c.*1706C>T | ENSP00000502419.1:n.*1706C>T | |
| ENST00000676021.1:c.*1145C>T | ENSP00000502746.1:n.*1145C>T | |
| ENST00000676037.1:c.*494C>T | ENSP00000502181.1:n.*494C>T | |
| ENST00000676136.1:n.5214C>T | ||
| ENST00000676442.1:c.2438C>T | ENSP00000502595.1:p.Ser813Leu | |
| ENST00000230124.7:c.2567C>T | ENSP00000230124.3:p.Ser856Leu | |
| NM_014845.5:c.2567C>T , LRG_241t1:c.2567C>T | NP_055660.1:p.Ser856Leu | |
| XM_011536281.1:c.2504C>T | XP_011534583.1:p.Ser835Leu | |
| XM_011536281.3:c.2504C>T | XP_011534583.1:p.Ser835Leu | |
| XM_017011592.1:c.2018C>T | XP_016867081.1:p.Ser673Leu | |
| XM_017011593.2:c.1637C>T | XP_016867082.1:p.Ser546Leu | |
| NM_014845.6:c.2567C>T MANE Select | NP_055660.1:p.Ser856Leu |