Linked Data
ClinVar Variation Id:
373317
ClinVar RCV Id:
RCV000413852
dbSNP Id:
rs1057518347
COSMIC:
COSM1039508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143552369G>C , CM000665.2:g.143552369G>C | GRCh38 |
| NC_000003.11:g.143271211G>C , CM000665.1:g.143271211G>C | GRCh37 |
| NC_000003.10:g.144753901G>C | NCBI36 |
| NG_017077.1:g.301163C>G | |
| NG_017077.2:g.301163C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.1082C>G MANE Select | ENSP00000320246.6:p.Thr361Ser | |
| ENST00000316549.10:c.1082C>G | ENSP00000320246.6:p.Thr361Ser | |
| NM_173653.3:c.1082C>G | NP_775924.1:p.Thr361Ser | |
| XM_011512703.1:c.434C>G | XP_011511005.1:p.Thr145Ser | |
| XM_011512703.3:c.434C>G | XP_011511005.1:p.Thr145Ser | |
| XM_017006202.2:c.1082C>G | XP_016861691.1:p.Thr361Ser | |
| XM_017006203.1:c.731C>G | XP_016861692.1:p.Thr244Ser | |
| NM_173653.4:c.1082C>G MANE Select | NP_775924.1:p.Thr361Ser |