Linked Data
ClinVar Variation Id:
205346
dbSNP Id:
rs147553344
ExAC:
11:1774770 T / C
gnomAD v2:
11-1774770-T-C
gnomAD v3:
11-1753540-T-C
gnomAD v4:
11-1753540-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753540T>C , CM000673.2:g.1753540T>C | GRCh38 |
| NC_000011.9:g.1774770T>C , CM000673.1:g.1774770T>C | GRCh37 |
| NC_000011.8:g.1731346T>C | NCBI36 |
| NG_008655.1:g.15453A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1202A>G MANE Select | ENSP00000236671.2:p.Asn401Ser | |
| ENST00000367196.4:c.1097A>G | ENSP00000356164.4:p.Asn366Ser | |
| ENST00000427721.3:c.627A>G | ||
| ENST00000429746.2:c.1097A>G | ENSP00000402586.2:p.Asn366Ser | |
| ENST00000433655.6:c.*368A>G | ENSP00000404902.1:n.*368A>G | |
| ENST00000438213.6:c.1319A>G | ENSP00000415036.2:p.Asn440Ser | |
| ENST00000636397.1:c.1071+263A>G | ENSP00000489910.1:n.1071+263A>G | |
| ENST00000636571.1:c.1181A>G | ENSP00000490770.1:p.Asn394Ser | |
| ENST00000636579.1:c.72+263A>G | ENSP00000490489.1:n.72+263A>G | |
| ENST00000636615.1:c.1071+263A>G | ENSP00000490014.1:n.1071+263A>G | |
| ENST00000636843.1:c.1196A>G | ENSP00000490897.1:p.Asn399Ser | |
| ENST00000637158.1:n.800A>G | ||
| ENST00000637381.2:n.3630A>G | ||
| ENST00000637387.1:c.1181A>G | ENSP00000490598.1:p.Asn394Ser | |
| ENST00000637815.2:c.1184A>G | ENSP00000490344.1:p.Asn395Ser | |
| ENST00000637915.1:c.1193A>G | ENSP00000490471.1:p.Asn398Ser | |
| ENST00000637937.1:n.510A>G | ||
| ENST00000678991.1:c.*1063A>G | ENSP00000503019.1:n.*1063A>G | |
| ENST00000236671.6:c.1202A>G | ENSP00000236671.2:p.Asn401Ser | |
| ENST00000427721.2:c.471+263A>G | ENSP00000415840.2:n.471+263A>G | |
| ENST00000429746.1:c.533A>G | ENSP00000402586.1:p.Asn178Ser | |
| ENST00000433655.5:c.*368A>G | ENSP00000404902.1:n.*368A>G | |
| NM_001909.4:c.1202A>G | NP_001900.1:p.Asn401Ser | |
| NM_001909.5:c.1202A>G MANE Select | NP_001900.1:p.Asn401Ser |