Linked Data
ClinVar Variation Id:
183145
dbSNP Id:
rs730882150
ExAC:
10:70764875 C / A
gnomAD v2:
10-70764875-C-A
gnomAD v3:
10-69005119-C-A
gnomAD v4:
10-69005119-C-A
PubMed:
PMID:23427148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69005119C>A , CM000672.2:g.69005119C>A | GRCh38 |
| NC_000010.10:g.70764875C>A , CM000672.1:g.70764875C>A | GRCh37 |
| NC_000010.9:g.70434881C>A | NCBI36 |
| NG_017061.1:g.21399C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361983.7:c.599C>A MANE Select | ENSP00000354848.4:p.Ser200Ter | |
| ENST00000625461.2:n.629C>A | ||
| ENST00000626493.2:c.599C>A | ENSP00000486692.1:p.Ser200Ter | |
| ENST00000635779.2:c.599C>A | ENSP00000489663.1:p.Ser200Ter | |
| ENST00000635971.2:c.599C>A | ENSP00000489878.2:p.Ser200Ter | |
| ENST00000636200.2:c.599C>A | ENSP00000490113.2:p.Ser200Ter | |
| ENST00000637101.2:c.*172C>A | ENSP00000490704.1:n.*172C>A | |
| ENST00000637104.2:c.*168C>A | ENSP00000490019.2:n.*168C>A | |
| ENST00000637323.2:c.*240C>A | ENSP00000489659.2:n.*240C>A | |
| ENST00000637420.2:c.599C>A | ENSP00000490404.2:p.Ser200Ter | |
| ENST00000637738.2:c.599C>A | ENSP00000490742.2:p.Ser200Ter | |
| ENST00000638119.2:c.674C>A | ENSP00000490026.1:p.Ser225Ter | |
| ENST00000674660.1:c.548C>A | ENSP00000502562.1:p.Ser183Ter | |
| ENST00000674688.1:n.629C>A | ||
| ENST00000674897.1:c.83C>A | ENSP00000502225.1:p.Ser28Ter | |
| ENST00000674936.1:c.599C>A | ENSP00000502484.1:p.Ser200Ter | |
| ENST00000675576.1:c.500C>A | ENSP00000502750.1:p.Ser167Ter | |
| ENST00000676080.1:c.*112C>A | ENSP00000502706.1:n.*112C>A | |
| ENST00000361983.6:c.599C>A | ENSP00000354848.4:p.Ser200Ter | |
| ENST00000625461.1:n.315C>A | ||
| ENST00000626493.1:c.599C>A | ENSP00000486692.1:p.Ser200Ter | |
| NM_015634.3:c.599C>A | NP_056449.1:p.Ser200Ter | |
| NM_015634.4:c.599C>A MANE Select | NP_056449.1:p.Ser200Ter |