Linked Data
ClinVar Variation Id:
2034346
ClinVar RCV Id:
RCV002885425
MyVariant Identifiers:
chr11:g.6638365A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617134A>G , CM000673.2:g.6617134A>G | GRCh38 |
| NC_000011.9:g.6638365A>G , CM000673.1:g.6638365A>G | GRCh37 |
| NC_000011.8:g.6594941A>G | NCBI36 |
| NG_008653.1:g.7328T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.414T>C | ENSP00000507321.1:p.Phe138= | |
| ENST00000299427.12:c.528T>C MANE Select | ENSP00000299427.6:p.Phe176= | |
| ENST00000428886.7:n.763T>C | ||
| ENST00000436873.7:c.312+167T>C | ||
| ENST00000524788.2:n.1687T>C | ||
| ENST00000524903.2:n.1803T>C | ||
| ENST00000528807.2:n.184T>C | ||
| ENST00000530040.2:n.479+225T>C | ||
| ENST00000533371.6:c.-202T>C | ENSP00000437066.1:n.-202T>C | |
| ENST00000534644.6:n.476T>C | ||
| ENST00000642892.1:c.-202T>C | ENSP00000494165.1:n.-202T>C | |
| ENST00000643439.1:c.*268T>C | ENSP00000495849.1:n.*268T>C | |
| ENST00000643479.1:n.557T>C | ||
| ENST00000643516.1:c.395+167T>C | ||
| ENST00000644151.1:n.1967T>C | ||
| ENST00000644218.1:c.528T>C | ENSP00000493574.1:p.Phe176= | |
| ENST00000644683.1:c.470T>C | ENSP00000494085.1:p.Phe157Ser | |
| ENST00000644810.1:c.249T>C | ENSP00000495895.1:p.Phe83= | |
| ENST00000644831.1:n.704T>C | ||
| ENST00000644933.1:c.-202T>C | ENSP00000496133.1:n.-202T>C | |
| ENST00000645020.1:n.1703T>C | ||
| ENST00000645285.1:c.-202T>C | ENSP00000495058.1:n.-202T>C | |
| ENST00000645331.1:n.894T>C | ||
| ENST00000645620.1:c.-202T>C | ENSP00000493657.1:n.-202T>C | |
| ENST00000646777.1:n.704T>C | ||
| ENST00000647016.1:n.1008T>C | ||
| ENST00000647152.1:c.-202T>C | ENSP00000495893.1:n.-202T>C | |
| ENST00000647209.1:c.*397T>C | ENSP00000495558.1:n.*397T>C | |
| ENST00000647346.1:n.1548T>C | ||
| ENST00000299427.10:c.528T>C | ENSP00000299427.6:p.Phe176= | |
| ENST00000428886.6:n.697T>C | ||
| ENST00000436873.6:c.450+225T>C | ENSP00000398136.2:n.450+225T>C | |
| ENST00000524788.1:n.228T>C | ||
| ENST00000528571.5:c.*268T>C | ENSP00000434647.1:n.*268T>C | |
| ENST00000528807.1:n.78T>C | ||
| ENST00000533371.5:c.-202T>C | ENSP00000437066.1:n.-202T>C | |
| ENST00000534644.5:n.513T>C | ||
| ENST00000611494.4:c.528T>C | ENSP00000484546.1:p.Phe176= | |
| NM_000391.3:c.528T>C | NP_000382.3:p.Phe176= | |
| NM_000391.4:c.528T>C MANE Select | NP_000382.3:p.Phe176= |