Linked Data
ClinVar Variation Id:
378758
dbSNP Id:
rs375548657
ExAC:
11:6638389 A / G
gnomAD v2:
11-6638389-A-G
gnomAD v3:
11-6617158-A-G
gnomAD v4:
11-6617158-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617158A>G , CM000673.2:g.6617158A>G | GRCh38 |
| NC_000011.9:g.6638389A>G , CM000673.1:g.6638389A>G | GRCh37 |
| NC_000011.8:g.6594965A>G | NCBI36 |
| NG_008653.1:g.7304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.395-5T>C | ENSP00000507321.1:n.395-5T>C | |
| ENST00000299427.12:c.509-5T>C MANE Select | ENSP00000299427.6:n.509-5T>C | |
| ENST00000428886.7:n.739T>C | ||
| ENST00000436873.7:c.312+143T>C | ||
| ENST00000524788.2:n.1663T>C | ||
| ENST00000524903.2:n.1779T>C | ||
| ENST00000528807.2:n.165-5T>C | ||
| ENST00000530040.2:n.479+201T>C | ||
| ENST00000533371.6:c.-221-5T>C | ENSP00000437066.1:n.-221-5T>C | |
| ENST00000534644.6:n.457-5T>C | ||
| ENST00000642892.1:c.-221-5T>C | ENSP00000494165.1:n.-221-5T>C | |
| ENST00000643439.1:c.*249-5T>C | ENSP00000495849.1:n.*249-5T>C | |
| ENST00000643479.1:n.538-5T>C | ||
| ENST00000643516.1:c.395+143T>C | ||
| ENST00000644151.1:n.1943T>C | ||
| ENST00000644218.1:c.509-5T>C | ENSP00000493574.1:n.509-5T>C | |
| ENST00000644683.1:c.451-5T>C | ENSP00000494085.1:n.451-5T>C | |
| ENST00000644810.1:c.230-5T>C | ENSP00000495895.1:n.230-5T>C | |
| ENST00000644831.1:n.680T>C | ||
| ENST00000644933.1:c.-221-5T>C | ENSP00000496133.1:n.-221-5T>C | |
| ENST00000645020.1:n.1679T>C | ||
| ENST00000645285.1:c.-221-5T>C | ENSP00000495058.1:n.-221-5T>C | |
| ENST00000645331.1:n.870T>C | ||
| ENST00000645620.1:c.-221-5T>C | ENSP00000493657.1:n.-221-5T>C | |
| ENST00000646777.1:n.680T>C | ||
| ENST00000647016.1:n.984T>C | ||
| ENST00000647152.1:c.-221-5T>C | ENSP00000495893.1:n.-221-5T>C | |
| ENST00000647209.1:c.*378-5T>C | ENSP00000495558.1:n.*378-5T>C | |
| ENST00000647346.1:n.1529-5T>C | ||
| ENST00000299427.10:c.509-5T>C | ENSP00000299427.6:n.509-5T>C | |
| ENST00000428886.6:n.673T>C | ||
| ENST00000436873.6:c.450+201T>C | ENSP00000398136.2:n.450+201T>C | |
| ENST00000524788.1:n.204T>C | ||
| ENST00000528571.5:c.*249-5T>C | ENSP00000434647.1:n.*249-5T>C | |
| ENST00000528807.1:n.54T>C | ||
| ENST00000533371.5:c.-221-5T>C | ENSP00000437066.1:n.-221-5T>C | |
| ENST00000534644.5:n.494-5T>C | ||
| ENST00000611494.4:c.509-5T>C | ENSP00000484546.1:n.509-5T>C | |
| NM_000391.3:c.509-5T>C | NP_000382.3:n.509-5T>C | |
| NM_000391.4:c.509-5T>C MANE Select | NP_000382.3:n.509-5T>C |