Linked Data
dbSNP Id:
rs750491249
ExAC:
11:6638834 A / G
gnomAD v2:
11-6638834-A-G
gnomAD v3:
11-6617603-A-G
gnomAD v4:
11-6617603-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617603A>G , CM000673.2:g.6617603A>G | GRCh38 |
| NC_000011.9:g.6638834A>G , CM000673.1:g.6638834A>G | GRCh37 |
| NC_000011.8:g.6595410A>G | NCBI36 |
| NG_008653.1:g.6859T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.266+23T>C | ENSP00000507321.1:n.266+23T>C | |
| ENST00000299427.12:c.380+23T>C MANE Select | ENSP00000299427.6:n.380+23T>C | |
| ENST00000428886.7:n.468+23T>C | ||
| ENST00000436873.7:c.184+23T>C | ||
| ENST00000524788.2:n.1392+23T>C | ||
| ENST00000524903.2:n.1508+23T>C | ||
| ENST00000528571.6:c.*120+23T>C | ENSP00000434647.1:n.*120+23T>C | |
| ENST00000530040.2:n.409+23T>C | ||
| ENST00000533371.6:c.-350+23T>C | ENSP00000437066.1:n.-350+23T>C | |
| ENST00000534644.6:n.381+23T>C | ||
| ENST00000642892.1:c.-297+23T>C | ENSP00000494165.1:n.-297+23T>C | |
| ENST00000643439.1:c.*120+23T>C | ENSP00000495849.1:n.*120+23T>C | |
| ENST00000643479.1:n.409+23T>C | ||
| ENST00000643516.1:c.267+23T>C | ||
| ENST00000644151.1:n.1672+23T>C | ||
| ENST00000644218.1:c.380+23T>C | ENSP00000493574.1:n.380+23T>C | |
| ENST00000644683.1:c.380+23T>C | ENSP00000494085.1:n.380+23T>C | |
| ENST00000644810.1:c.230-450T>C | ENSP00000495895.1:n.230-450T>C | |
| ENST00000644831.1:n.409+23T>C | ||
| ENST00000644933.1:c.-350+23T>C | ENSP00000496133.1:n.-350+23T>C | |
| ENST00000645020.1:n.1408+23T>C | ||
| ENST00000645285.1:c.-350+23T>C | ENSP00000495058.1:n.-350+23T>C | |
| ENST00000645331.1:n.425T>C | ||
| ENST00000645620.1:c.-292+23T>C | ENSP00000493657.1:n.-292+23T>C | |
| ENST00000646777.1:n.409+23T>C | ||
| ENST00000647016.1:n.713+23T>C | ||
| ENST00000647152.1:c.-350+23T>C | ENSP00000495893.1:n.-350+23T>C | |
| ENST00000647209.1:c.*249+23T>C | ENSP00000495558.1:n.*249+23T>C | |
| ENST00000647346.1:n.1400+23T>C | ||
| ENST00000299427.10:c.380+23T>C | ENSP00000299427.6:n.380+23T>C | |
| ENST00000428886.6:n.402+23T>C | ||
| ENST00000436873.6:c.380+23T>C | ENSP00000398136.2:n.380+23T>C | |
| ENST00000528571.5:c.*120+23T>C | ENSP00000434647.1:n.*120+23T>C | |
| ENST00000530040.1:n.492+23T>C | ||
| ENST00000533371.5:c.-350+23T>C | ENSP00000437066.1:n.-350+23T>C | |
| ENST00000534644.5:n.365+23T>C | ||
| ENST00000611494.4:c.380+23T>C | ENSP00000484546.1:n.380+23T>C | |
| NM_000391.3:c.380+23T>C | NP_000382.3:n.380+23T>C | |
| NM_000391.4:c.380+23T>C MANE Select | NP_000382.3:n.380+23T>C |