Linked Data
ClinVar Variation Id:
558855
ClinVar RCV Id:
RCV000675462
dbSNP Id:
rs116069009
ExAC:
11:6638409 G / A
gnomAD v2:
11-6638409-G-A
gnomAD v3:
11-6617178-G-A
gnomAD v4:
11-6617178-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617178G>A , CM000673.2:g.6617178G>A | GRCh38 |
| NC_000011.9:g.6638409G>A , CM000673.1:g.6638409G>A | GRCh37 |
| NC_000011.8:g.6594985G>A | NCBI36 |
| NG_008653.1:g.7284C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.395-25C>T | ENSP00000507321.1:n.395-25C>T | |
| ENST00000299427.12:c.509-25C>T MANE Select | ENSP00000299427.6:n.509-25C>T | |
| ENST00000428886.7:n.719C>T | ||
| ENST00000436873.7:c.312+123C>T | ||
| ENST00000524788.2:n.1643C>T | ||
| ENST00000524903.2:n.1759C>T | ||
| ENST00000528807.2:n.165-25C>T | ||
| ENST00000530040.2:n.479+181C>T | ||
| ENST00000533371.6:c.-221-25C>T | ENSP00000437066.1:n.-221-25C>T | |
| ENST00000534644.6:n.457-25C>T | ||
| ENST00000642892.1:c.-221-25C>T | ENSP00000494165.1:n.-221-25C>T | |
| ENST00000643439.1:c.*249-25C>T | ENSP00000495849.1:n.*249-25C>T | |
| ENST00000643479.1:n.538-25C>T | ||
| ENST00000643516.1:c.395+123C>T | ||
| ENST00000644151.1:n.1923C>T | ||
| ENST00000644218.1:c.509-25C>T | ENSP00000493574.1:n.509-25C>T | |
| ENST00000644683.1:c.451-25C>T | ENSP00000494085.1:n.451-25C>T | |
| ENST00000644810.1:c.230-25C>T | ENSP00000495895.1:n.230-25C>T | |
| ENST00000644831.1:n.660C>T | ||
| ENST00000644933.1:c.-221-25C>T | ENSP00000496133.1:n.-221-25C>T | |
| ENST00000645020.1:n.1659C>T | ||
| ENST00000645285.1:c.-221-25C>T | ENSP00000495058.1:n.-221-25C>T | |
| ENST00000645331.1:n.850C>T | ||
| ENST00000645620.1:c.-221-25C>T | ENSP00000493657.1:n.-221-25C>T | |
| ENST00000646777.1:n.660C>T | ||
| ENST00000647016.1:n.964C>T | ||
| ENST00000647152.1:c.-221-25C>T | ENSP00000495893.1:n.-221-25C>T | |
| ENST00000647209.1:c.*378-25C>T | ENSP00000495558.1:n.*378-25C>T | |
| ENST00000647346.1:n.1529-25C>T | ||
| ENST00000299427.10:c.509-25C>T | ENSP00000299427.6:n.509-25C>T | |
| ENST00000428886.6:n.653C>T | ||
| ENST00000436873.6:c.450+181C>T | ENSP00000398136.2:n.450+181C>T | |
| ENST00000524788.1:n.184C>T | ||
| ENST00000528571.5:c.*249-25C>T | ENSP00000434647.1:n.*249-25C>T | |
| ENST00000528807.1:n.34C>T | ||
| ENST00000533371.5:c.-221-25C>T | ENSP00000437066.1:n.-221-25C>T | |
| ENST00000534644.5:n.494-25C>T | ||
| ENST00000611494.4:c.509-25C>T | ENSP00000484546.1:n.509-25C>T | |
| NM_000391.3:c.509-25C>T | NP_000382.3:n.509-25C>T | |
| NM_000391.4:c.509-25C>T MANE Select | NP_000382.3:n.509-25C>T |