Linked Data
ClinVar Variation Id:
382690
dbSNP Id:
rs145966505
ExAC:
11:6637563 G / T
gnomAD v2:
11-6637563-G-T
gnomAD v3:
11-6616332-G-T
gnomAD v4:
11-6616332-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616332G>T , CM000673.2:g.6616332G>T | GRCh38 |
| NC_000011.9:g.6637563G>T , CM000673.1:g.6637563G>T | GRCh37 |
| NC_000011.8:g.6594139G>T | NCBI36 |
| NG_008653.1:g.8130C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.944C>A | ENSP00000507321.1:p.Thr315Asn | |
| ENST00000299427.12:c.1058C>A MANE Select | ENSP00000299427.6:p.Thr353Asn | |
| ENST00000436873.7:c.313-258C>A | ||
| ENST00000533371.6:c.329C>A | ENSP00000437066.1:p.Thr110Asn | |
| ENST00000642892.1:c.329C>A | ENSP00000494165.1:p.Thr110Asn | |
| ENST00000643342.1:c.148C>A | ||
| ENST00000643439.1:c.*798C>A | ENSP00000495849.1:n.*798C>A | |
| ENST00000643479.1:n.1244C>A | ||
| ENST00000643516.1:c.567C>A | ||
| ENST00000644218.1:c.887-258C>A | ENSP00000493574.1:n.887-258C>A | |
| ENST00000644683.1:c.*511C>A | ENSP00000494085.1:n.*511C>A | |
| ENST00000644810.1:c.779C>A | ENSP00000495895.1:p.Thr260Asn | |
| ENST00000644831.1:n.1234C>A | ||
| ENST00000644933.1:c.329C>A | ENSP00000496133.1:p.Thr110Asn | |
| ENST00000645285.1:c.158-258C>A | ENSP00000495058.1:n.158-258C>A | |
| ENST00000645331.1:n.1581C>A | ||
| ENST00000645620.1:c.329C>A | ENSP00000493657.1:p.Thr110Asn | |
| ENST00000646691.1:n.151C>A | ||
| ENST00000646777.1:n.1391C>A | ||
| ENST00000647016.1:n.1538C>A | ||
| ENST00000647152.1:c.329C>A | ENSP00000495893.1:p.Thr110Asn | |
| ENST00000647209.1:c.*927C>A | ENSP00000495558.1:n.*927C>A | |
| ENST00000647346.1:n.2078C>A | ||
| ENST00000299427.10:c.1058C>A | ENSP00000299427.6:p.Thr353Asn | |
| ENST00000533371.5:c.329C>A | ENSP00000437066.1:p.Thr110Asn | |
| ENST00000611494.4:c.1058C>A | ENSP00000484546.1:p.Thr353Asn | |
| NM_000391.3:c.1058C>A | NP_000382.3:p.Thr353Asn | |
| NM_000391.4:c.1058C>A MANE Select | NP_000382.3:p.Thr353Asn |