Linked Data
ClinVar Variation Id:
8426
dbSNP Id:
rs29001685
gnomAD v2:
1-150769339-A-G
gnomAD v3:
1-150796863-A-G
gnomAD v4:
1-150796863-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150796863A>G , CM000663.2:g.150796863A>G | GRCh38 |
| NC_000001.10:g.150769339A>G , CM000663.1:g.150769339A>G | GRCh37 |
| NC_000001.9:g.149035963A>G | NCBI36 |
| NG_011848.1:g.16474T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.926T>C MANE Select | ENSP00000271651.3:p.Leu309Pro | |
| ENST00000443913.2:c.1103T>C | ENSP00000405083.2:p.Leu368Pro | |
| ENST00000480670.2:n.3995T>C | ||
| ENST00000676680.1:c.*220T>C | ENSP00000503270.1:n.*220T>C | |
| ENST00000676716.1:c.803T>C | ENSP00000504737.1:p.Leu268Pro | |
| ENST00000676751.1:c.820T>C | ENSP00000502964.1:p.Ser274Pro | |
| ENST00000676824.1:c.926T>C | ENSP00000504176.1:p.Leu309Pro | |
| ENST00000676966.1:c.926T>C | ENSP00000503723.1:p.Leu309Pro | |
| ENST00000676970.1:c.938T>C | ENSP00000503832.1:p.Leu313Pro | |
| ENST00000677330.1:n.2752T>C | ||
| ENST00000677611.1:n.778T>C | ||
| ENST00000677887.1:c.968T>C | ENSP00000503876.1:p.Leu323Pro | |
| ENST00000678275.1:c.*818T>C | ENSP00000504796.1:n.*818T>C | |
| ENST00000678337.1:c.962T>C | ENSP00000504759.1:p.Leu321Pro | |
| ENST00000678725.1:n.2173T>C | ||
| ENST00000679090.1:n.1781T>C | ||
| ENST00000679148.1:n.3888T>C | ||
| ENST00000679171.1:n.3557T>C | ||
| ENST00000679178.1:n.637T>C | ||
| ENST00000679260.1:c.707T>C | ENSP00000504534.1:p.Leu236Pro | |
| ENST00000271651.7:c.926T>C | ENSP00000271651.3:p.Leu309Pro | |
| NM_000396.3:c.926T>C | NP_000387.1:p.Leu309Pro | |
| NM_000396.4:c.926T>C MANE Select | NP_000387.1:p.Leu309Pro |