Linked Data
ClinVar Variation Id:
588922
dbSNP Id:
rs778947332
ExAC:
11:6638575 A / G
gnomAD v2:
11-6638575-A-G
gnomAD v3:
11-6617344-A-G
gnomAD v4:
11-6617344-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617344A>G , CM000673.2:g.6617344A>G | GRCh38 |
| NC_000011.9:g.6638575A>G , CM000673.1:g.6638575A>G | GRCh37 |
| NC_000011.8:g.6595151A>G | NCBI36 |
| NG_008653.1:g.7118T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.351T>C | ENSP00000507321.1:p.His117= | |
| ENST00000299427.12:c.465T>C MANE Select | ENSP00000299427.6:p.His155= | |
| ENST00000428886.7:n.553T>C | ||
| ENST00000436873.7:c.269T>C | ||
| ENST00000524788.2:n.1477T>C | ||
| ENST00000524903.2:n.1593T>C | ||
| ENST00000528571.6:c.*205T>C | ENSP00000434647.1:n.*205T>C | |
| ENST00000528807.2:n.121T>C | ||
| ENST00000530040.2:n.479+15T>C | ||
| ENST00000533371.6:c.-265T>C | ENSP00000437066.1:n.-265T>C | |
| ENST00000534644.6:n.456+10T>C | ||
| ENST00000642892.1:c.-222+10T>C | ENSP00000494165.1:n.-222+10T>C | |
| ENST00000643439.1:c.*205T>C | ENSP00000495849.1:n.*205T>C | |
| ENST00000643479.1:n.494T>C | ||
| ENST00000643516.1:c.352T>C | ||
| ENST00000644151.1:n.1757T>C | ||
| ENST00000644218.1:c.465T>C | ENSP00000493574.1:p.His155= | |
| ENST00000644683.1:c.450+15T>C | ENSP00000494085.1:n.450+15T>C | |
| ENST00000644810.1:c.230-191T>C | ENSP00000495895.1:n.230-191T>C | |
| ENST00000644831.1:n.494T>C | ||
| ENST00000644933.1:c.-265T>C | ENSP00000496133.1:n.-265T>C | |
| ENST00000645020.1:n.1493T>C | ||
| ENST00000645285.1:c.-265T>C | ENSP00000495058.1:n.-265T>C | |
| ENST00000645331.1:n.684T>C | ||
| ENST00000645620.1:c.-222+15T>C | ENSP00000493657.1:n.-222+15T>C | |
| ENST00000646777.1:n.494T>C | ||
| ENST00000647016.1:n.798T>C | ||
| ENST00000647152.1:c.-265T>C | ENSP00000495893.1:n.-265T>C | |
| ENST00000647209.1:c.*334T>C | ENSP00000495558.1:n.*334T>C | |
| ENST00000647346.1:n.1485T>C | ||
| ENST00000299427.10:c.465T>C | ENSP00000299427.6:p.His155= | |
| ENST00000428886.6:n.487T>C | ||
| ENST00000436873.6:c.450+15T>C | ENSP00000398136.2:n.450+15T>C | |
| ENST00000524788.1:n.18T>C | ||
| ENST00000528571.5:c.*205T>C | ENSP00000434647.1:n.*205T>C | |
| ENST00000533371.5:c.-265T>C | ENSP00000437066.1:n.-265T>C | |
| ENST00000534644.5:n.450T>C | ||
| ENST00000611494.4:c.465T>C | ENSP00000484546.1:p.His155= | |
| NM_000391.3:c.465T>C | NP_000382.3:p.His155= | |
| NM_000391.4:c.465T>C MANE Select | NP_000382.3:p.His155= |