Linked Data
ClinVar Variation Id:
2115979
ClinVar RCV Id:
RCV003024490
MyVariant Identifiers:
chr11:g.6638539C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617308C>G , CM000673.2:g.6617308C>G | GRCh38 |
| NC_000011.9:g.6638539C>G , CM000673.1:g.6638539C>G | GRCh37 |
| NC_000011.8:g.6595115C>G | NCBI36 |
| NG_008653.1:g.7154G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.387G>C | ENSP00000507321.1:p.Val129= | |
| ENST00000299427.12:c.501G>C MANE Select | ENSP00000299427.6:p.Val167= | |
| ENST00000428886.7:n.589G>C | ||
| ENST00000436873.7:c.305G>C | ||
| ENST00000524788.2:n.1513G>C | ||
| ENST00000524903.2:n.1629G>C | ||
| ENST00000528571.6:c.*241G>C | ENSP00000434647.1:n.*241G>C | |
| ENST00000528807.2:n.157G>C | ||
| ENST00000530040.2:n.479+51G>C | ||
| ENST00000533371.6:c.-229G>C | ENSP00000437066.1:n.-229G>C | |
| ENST00000534644.6:n.456+46G>C | ||
| ENST00000642892.1:c.-222+46G>C | ENSP00000494165.1:n.-222+46G>C | |
| ENST00000643439.1:c.*241G>C | ENSP00000495849.1:n.*241G>C | |
| ENST00000643479.1:n.530G>C | ||
| ENST00000643516.1:c.388G>C | ||
| ENST00000644151.1:n.1793G>C | ||
| ENST00000644218.1:c.501G>C | ENSP00000493574.1:p.Val167= | |
| ENST00000644683.1:c.450+51G>C | ENSP00000494085.1:n.450+51G>C | |
| ENST00000644810.1:c.230-155G>C | ENSP00000495895.1:n.230-155G>C | |
| ENST00000644831.1:n.530G>C | ||
| ENST00000644933.1:c.-229G>C | ENSP00000496133.1:n.-229G>C | |
| ENST00000645020.1:n.1529G>C | ||
| ENST00000645285.1:c.-229G>C | ENSP00000495058.1:n.-229G>C | |
| ENST00000645331.1:n.720G>C | ||
| ENST00000645620.1:c.-222+51G>C | ENSP00000493657.1:n.-222+51G>C | |
| ENST00000646777.1:n.530G>C | ||
| ENST00000647016.1:n.834G>C | ||
| ENST00000647152.1:c.-229G>C | ENSP00000495893.1:n.-229G>C | |
| ENST00000647209.1:c.*370G>C | ENSP00000495558.1:n.*370G>C | |
| ENST00000647346.1:n.1521G>C | ||
| ENST00000299427.10:c.501G>C | ENSP00000299427.6:p.Val167= | |
| ENST00000428886.6:n.523G>C | ||
| ENST00000436873.6:c.450+51G>C | ENSP00000398136.2:n.450+51G>C | |
| ENST00000524788.1:n.54G>C | ||
| ENST00000528571.5:c.*241G>C | ENSP00000434647.1:n.*241G>C | |
| ENST00000533371.5:c.-229G>C | ENSP00000437066.1:n.-229G>C | |
| ENST00000534644.5:n.486G>C | ||
| ENST00000611494.4:c.501G>C | ENSP00000484546.1:p.Val167= | |
| NM_000391.3:c.501G>C | NP_000382.3:p.Val167= | |
| NM_000391.4:c.501G>C MANE Select | NP_000382.3:p.Val167= |