Linked Data
ClinVar Variation Id:
2762131
ClinVar RCV Id:
RCV003569933
MyVariant Identifiers:
chr11:g.6638964T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617733T>C , CM000673.2:g.6617733T>C | GRCh38 |
| NC_000011.9:g.6638964T>C , CM000673.1:g.6638964T>C | GRCh37 |
| NC_000011.8:g.6595540T>C | NCBI36 |
| NG_008653.1:g.6729A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.159A>G | ENSP00000507321.1:p.Pro53= | |
| ENST00000299427.12:c.273A>G MANE Select | ENSP00000299427.6:p.Pro91= | |
| ENST00000428886.7:n.361A>G | ||
| ENST00000436873.7:c.77A>G | ||
| ENST00000524788.2:n.1285A>G | ||
| ENST00000524903.2:n.1401A>G | ||
| ENST00000528571.6:c.*13A>G | ENSP00000434647.1:n.*13A>G | |
| ENST00000530040.2:n.302A>G | ||
| ENST00000533371.6:c.-457A>G | ENSP00000437066.1:n.-457A>G | |
| ENST00000534644.6:n.274A>G | ||
| ENST00000642892.1:c.-404A>G | ENSP00000494165.1:n.-404A>G | |
| ENST00000643439.1:c.*13A>G | ENSP00000495849.1:n.*13A>G | |
| ENST00000643479.1:n.302A>G | ||
| ENST00000643516.1:c.160A>G | ||
| ENST00000644151.1:n.1565A>G | ||
| ENST00000644218.1:c.273A>G | ENSP00000493574.1:p.Pro91= | |
| ENST00000644683.1:c.273A>G | ENSP00000494085.1:p.Pro91= | |
| ENST00000644810.1:c.230-580A>G | ENSP00000495895.1:n.230-580A>G | |
| ENST00000644831.1:n.302A>G | ||
| ENST00000644933.1:c.-457A>G | ENSP00000496133.1:n.-457A>G | |
| ENST00000645020.1:n.1301A>G | ||
| ENST00000645285.1:c.-457A>G | ENSP00000495058.1:n.-457A>G | |
| ENST00000645331.1:n.295A>G | ||
| ENST00000645620.1:c.-399A>G | ENSP00000493657.1:n.-399A>G | |
| ENST00000646777.1:n.302A>G | ||
| ENST00000647016.1:n.606A>G | ||
| ENST00000647152.1:c.-457A>G | ENSP00000495893.1:n.-457A>G | |
| ENST00000647209.1:c.*142A>G | ENSP00000495558.1:n.*142A>G | |
| ENST00000647346.1:n.1293A>G | ||
| ENST00000299427.10:c.273A>G | ENSP00000299427.6:p.Pro91= | |
| ENST00000428886.6:n.295A>G | ||
| ENST00000436873.6:c.273A>G | ENSP00000398136.2:p.Pro91= | |
| ENST00000528571.5:c.*13A>G | ENSP00000434647.1:n.*13A>G | |
| ENST00000530040.1:n.385A>G | ||
| ENST00000533371.5:c.-457A>G | ENSP00000437066.1:n.-457A>G | |
| ENST00000534644.5:n.258A>G | ||
| ENST00000611494.4:c.273A>G | ENSP00000484546.1:p.Pro91= | |
| NM_000391.3:c.273A>G | NP_000382.3:p.Pro91= | |
| NM_000391.4:c.273A>G MANE Select | NP_000382.3:p.Pro91= |