Linked Data
ClinVar Variation Id:
453247
dbSNP Id:
rs1010907740
gnomAD v4:
8-144084471-T-C
PubMed:
PMID:29100095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144084471T>C , CM000670.2:g.144084471T>C | GRCh38 |
| NC_000008.10:g.145139374T>C , CM000670.1:g.145139374T>C | GRCh37 |
| NC_000008.9:g.145211362T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361036.11:c.692T>C | ENSP00000354316.6:p.Leu231Pro | |
| ENST00000524418.6:c.830T>C | ENSP00000434544.2:p.Leu277Pro | |
| ENST00000525087.6:c.656T>C | ENSP00000434485.3:p.Leu219Pro | |
| ENST00000525308.2:n.1267T>C | ||
| ENST00000526341.6:c.*414T>C | ENSP00000515386.1:n.*414T>C | |
| ENST00000527144.6:c.720T>C | ENSP00000515403.1:p.Ala240= | |
| ENST00000528073.6:c.*190T>C | ENSP00000435119.1:n.*190T>C | |
| ENST00000529503.6:c.*319T>C | ENSP00000435024.1:n.*319T>C | |
| ENST00000529638.2:n.969T>C | ||
| ENST00000530258.2:n.1277T>C | ||
| ENST00000530796.2:n.963T>C | ||
| ENST00000531593.2:n.657T>C | ||
| ENST00000532758.6:n.1479T>C | ||
| ENST00000703441.1:n.973T>C | ||
| ENST00000703620.1:c.866T>C | ENSP00000515404.1:p.Leu289Pro | |
| ENST00000703621.1:c.872T>C | ENSP00000515405.1:p.Leu291Pro | |
| ENST00000703622.1:c.872T>C | ENSP00000515406.1:p.Leu291Pro | |
| ENST00000703623.1:n.703T>C | ||
| ENST00000703631.1:c.618T>C | ENSP00000515409.1:p.Ala206= | |
| ENST00000703632.1:n.1051T>C | ||
| ENST00000703633.1:c.830T>C | ENSP00000515410.1:p.Leu277Pro | |
| ENST00000703634.1:c.618T>C | ||
| ENST00000703635.1:c.506T>C | ENSP00000515412.1:p.Leu169Pro | |
| ENST00000703647.1:n.1186T>C | ||
| ENST00000703648.1:c.872T>C | ENSP00000515415.1:p.Leu291Pro | |
| ENST00000703649.1:c.872T>C | ENSP00000515416.1:p.Leu291Pro | |
| ENST00000703650.1:n.1175T>C | ||
| ENST00000703651.1:n.935T>C | ||
| ENST00000703652.1:n.537T>C | ||
| ENST00000703653.1:n.773T>C | ||
| ENST00000703654.1:n.496T>C | ||
| ENST00000703670.1:n.1223T>C | ||
| ENST00000703671.1:n.1264T>C | ||
| ENST00000703672.1:c.*309T>C | ENSP00000515424.1:n.*309T>C | |
| ENST00000703673.1:n.734T>C | ||
| ENST00000703674.1:n.568T>C | ||
| ENST00000703675.1:n.1158T>C | ||
| ENST00000703676.1:n.657T>C | ||
| ENST00000703678.1:n.643T>C | ||
| ENST00000703679.1:n.455T>C | ||
| ENST00000703680.1:n.736T>C | ||
| ENST00000703681.1:n.1230T>C | ||
| ENST00000703682.1:c.381T>C | ||
| ENST00000703720.1:c.*319T>C | ENSP00000515449.1:n.*319T>C | |
| ENST00000703721.1:n.1057T>C | ||
| ENST00000703722.1:n.935T>C | ||
| ENST00000703723.1:n.1323T>C | ||
| ENST00000703724.1:n.94T>C | ||
| ENST00000703725.1:c.872T>C | ENSP00000515450.1:p.Leu291Pro | |
| ENST00000704789.1:c.470T>C | ENSP00000516036.1:p.Leu157Pro | |
| ENST00000704790.1:n.1154T>C | ||
| ENST00000704791.1:c.514T>C | ||
| ENST00000704793.1:n.299T>C | ||
| ENST00000704794.1:c.506T>C | ENSP00000516039.1:p.Leu169Pro | |
| ENST00000704795.1:n.816T>C | ||
| ENST00000704796.1:n.855T>C | ||
| ENST00000704797.1:n.1205T>C | ||
| ENST00000704798.1:n.642T>C | ||
| ENST00000704799.1:n.671T>C | ||
| ENST00000704806.1:c.692T>C | ENSP00000516043.1:p.Leu231Pro | |
| ENST00000704807.1:c.866T>C | ENSP00000516044.1:p.Leu289Pro | |
| ENST00000704808.1:c.872T>C | ENSP00000516045.1:p.Leu291Pro | |
| ENST00000704809.1:c.830T>C | ENSP00000516046.1:p.Leu277Pro | |
| ENST00000704810.1:n.977T>C | ||
| ENST00000704811.1:c.618T>C | ||
| ENST00000704812.1:n.621T>C | ||
| ENST00000704813.1:n.519T>C | ||
| ENST00000355091.9:c.872T>C MANE Select | ENSP00000347206.4:p.Leu291Pro | |
| ENST00000355091.8:c.872T>C | ENSP00000347206.4:p.Leu291Pro | |
| ENST00000361036.10:c.692T>C | ENSP00000354316.6:p.Leu231Pro | |
| ENST00000525087.5:c.656T>C | ENSP00000434485.2:p.Leu219Pro | |
| ENST00000526233.5:n.223T>C | ||
| ENST00000527144.5:n.555T>C | ||
| ENST00000527653.1:n.344T>C | ||
| ENST00000528073.5:c.*190T>C | ENSP00000435119.1:n.*190T>C | |
| ENST00000529638.1:n.199T>C | ||
| ENST00000530633.1:c.*319T>C | ENSP00000431233.1:n.*319T>C | |
| NM_003801.3:c.872T>C | NP_003792.1:p.Leu291Pro | |
| NM_003801.4:c.872T>C MANE Select | NP_003792.1:p.Leu291Pro |