Linked Data
ClinVar Variation Id:
2131834
ClinVar RCV Id:
RCV003036448
dbSNP Id:
rs141920079
ExAC:
11:6637975 C / G
gnomAD v2:
11-6637975-C-G
COSMIC:
COSM1509615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616744C>G , CM000673.2:g.6616744C>G | GRCh38 |
| NC_000011.9:g.6637975C>G , CM000673.1:g.6637975C>G | GRCh37 |
| NC_000011.8:g.6594551C>G | NCBI36 |
| NG_008653.1:g.7718G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.689G>C | ENSP00000507321.1:p.Arg230Pro | |
| ENST00000299427.12:c.803G>C MANE Select | ENSP00000299427.6:p.Arg268Pro | |
| ENST00000436873.7:c.312+557G>C | ||
| ENST00000524788.2:n.1962G>C | ||
| ENST00000524903.2:n.2078G>C | ||
| ENST00000528807.2:n.459G>C | ||
| ENST00000530040.2:n.480-241G>C | ||
| ENST00000533371.6:c.74G>C | ENSP00000437066.1:p.Arg25Pro | |
| ENST00000642892.1:c.74G>C | ENSP00000494165.1:p.Arg25Pro | |
| ENST00000643439.1:c.*543G>C | ENSP00000495849.1:n.*543G>C | |
| ENST00000643479.1:n.832G>C | ||
| ENST00000643516.1:c.396-241G>C | ||
| ENST00000644151.1:n.2242G>C | ||
| ENST00000644218.1:c.803G>C | ENSP00000493574.1:p.Arg268Pro | |
| ENST00000644683.1:c.*256G>C | ENSP00000494085.1:n.*256G>C | |
| ENST00000644810.1:c.524G>C | ENSP00000495895.1:p.Arg175Pro | |
| ENST00000644831.1:n.979G>C | ||
| ENST00000644933.1:c.74G>C | ENSP00000496133.1:p.Arg25Pro | |
| ENST00000645020.1:n.2093G>C | ||
| ENST00000645285.1:c.74G>C | ENSP00000495058.1:p.Arg25Pro | |
| ENST00000645331.1:n.1169G>C | ||
| ENST00000645620.1:c.74G>C | ENSP00000493657.1:p.Arg25Pro | |
| ENST00000646777.1:n.979G>C | ||
| ENST00000647016.1:n.1283G>C | ||
| ENST00000647152.1:c.74G>C | ENSP00000495893.1:p.Arg25Pro | |
| ENST00000647209.1:c.*672G>C | ENSP00000495558.1:n.*672G>C | |
| ENST00000647346.1:n.1823G>C | ||
| ENST00000299427.10:c.803G>C | ENSP00000299427.6:p.Arg268Pro | |
| ENST00000436873.6:c.451-241G>C | ENSP00000398136.2:n.451-241G>C | |
| ENST00000524788.1:n.503G>C | ||
| ENST00000528807.1:n.353G>C | ||
| ENST00000533371.5:c.74G>C | ENSP00000437066.1:p.Arg25Pro | |
| ENST00000611494.4:c.803G>C | ENSP00000484546.1:p.Arg268Pro | |
| NM_000391.3:c.803G>C | NP_000382.3:p.Arg268Pro | |
| NM_000391.4:c.803G>C MANE Select | NP_000382.3:p.Arg268Pro |