Linked Data
ClinVar Variation Id:
2350531
ClinVar RCV Id:
RCV004196523
dbSNP Id:
rs181955458
ExAC:
6:10927539 C / G
gnomAD v2:
6-10927539-C-G
gnomAD v3:
6-10927306-C-G
gnomAD v4:
6-10927306-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10927306C>G , CM000668.2:g.10927306C>G | GRCh38 |
| NC_000006.11:g.10927539C>G , CM000668.1:g.10927539C>G | GRCh37 |
| NC_000006.10:g.11035525C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283141.11:c.1379C>G MANE Select | ENSP00000283141.6:p.Thr460Ser | |
| ENST00000283141.10:c.1379C>G | ENSP00000283141.6:p.Thr460Ser | |
| ENST00000341041.8:c.*557C>G | ENSP00000340320.4:n.*557C>G | |
| ENST00000480294.1:c.*1274+874C>G | ENSP00000417929.1:n.*1274+874C>G | |
| ENST00000543878.5:c.1376C>G | ENSP00000440676.2:p.Thr459Ser | |
| NM_001040274.2:c.1379C>G | NP_001035364.2:p.Thr460Ser | |
| NM_001040274.3:c.1379C>G MANE Select | NP_001035364.2:p.Thr460Ser |