Linked Data
ClinVar Variation Id:
1556669
ClinVar RCV Id:
RCV002202329
dbSNP Id:
rs755740699
ExAC:
11:6638103 T / A
gnomAD v2:
11-6638103-T-A
gnomAD v4:
11-6616872-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616872T>A , CM000673.2:g.6616872T>A | GRCh38 |
| NC_000011.9:g.6638103T>A , CM000673.1:g.6638103T>A | GRCh37 |
| NC_000011.8:g.6594679T>A | NCBI36 |
| NG_008653.1:g.7590A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.574-13A>T | ENSP00000507321.1:n.574-13A>T | |
| ENST00000299427.12:c.688-13A>T MANE Select | ENSP00000299427.6:n.688-13A>T | |
| ENST00000436873.7:c.312+429A>T | ||
| ENST00000524788.2:n.1847-13A>T | ||
| ENST00000524903.2:n.1963-13A>T | ||
| ENST00000528807.2:n.344-13A>T | ||
| ENST00000530040.2:n.480-369A>T | ||
| ENST00000533371.6:c.-42-13A>T | ENSP00000437066.1:n.-42-13A>T | |
| ENST00000642892.1:c.-42-13A>T | ENSP00000494165.1:n.-42-13A>T | |
| ENST00000643439.1:c.*428-13A>T | ENSP00000495849.1:n.*428-13A>T | |
| ENST00000643479.1:n.717-13A>T | ||
| ENST00000643516.1:c.396-369A>T | ||
| ENST00000644151.1:n.2127-13A>T | ||
| ENST00000644218.1:c.688-13A>T | ENSP00000493574.1:n.688-13A>T | |
| ENST00000644683.1:c.*141-13A>T | ENSP00000494085.1:n.*141-13A>T | |
| ENST00000644810.1:c.409-13A>T | ENSP00000495895.1:n.409-13A>T | |
| ENST00000644831.1:n.864-13A>T | ||
| ENST00000644933.1:c.-42-13A>T | ENSP00000496133.1:n.-42-13A>T | |
| ENST00000645020.1:n.1965A>T | ||
| ENST00000645285.1:c.-42-13A>T | ENSP00000495058.1:n.-42-13A>T | |
| ENST00000645331.1:n.1054-13A>T | ||
| ENST00000645620.1:c.-42-13A>T | ENSP00000493657.1:n.-42-13A>T | |
| ENST00000646777.1:n.864-13A>T | ||
| ENST00000647016.1:n.1168-13A>T | ||
| ENST00000647152.1:c.-42-13A>T | ENSP00000495893.1:n.-42-13A>T | |
| ENST00000647209.1:c.*557-13A>T | ENSP00000495558.1:n.*557-13A>T | |
| ENST00000647346.1:n.1708-13A>T | ||
| ENST00000299427.10:c.688-13A>T | ENSP00000299427.6:n.688-13A>T | |
| ENST00000436873.6:c.451-369A>T | ENSP00000398136.2:n.451-369A>T | |
| ENST00000524788.1:n.388-13A>T | ||
| ENST00000528807.1:n.238-13A>T | ||
| ENST00000533371.5:c.-42-13A>T | ENSP00000437066.1:n.-42-13A>T | |
| ENST00000611494.4:c.688-13A>T | ENSP00000484546.1:n.688-13A>T | |
| NM_000391.3:c.688-13A>T | NP_000382.3:n.688-13A>T | |
| NM_000391.4:c.688-13A>T MANE Select | NP_000382.3:n.688-13A>T |