Linked Data
ClinVar Variation Id:
216987
dbSNP Id:
rs863224909
COSMIC:
COSM86061
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960952C>G , CM000672.2:g.87960952C>G | GRCh38 |
| NC_000010.10:g.89720709C>G , CM000672.1:g.89720709C>G | GRCh37 |
| NC_000010.9:g.89710689C>G | NCBI36 |
| NG_007466.2:g.102514C>G , LRG_311:g.102514C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.953C>G | ENSP00000514759.2:p.Ser318Ter | |
| ENST00000710265.1:c.860C>G | ENSP00000518161.1:p.Ser287Ter | |
| ENST00000472832.3:c.860C>G | ENSP00000483066.2:p.Ser287Ter | |
| ENST00000688158.2:n.1595C>G | ||
| ENST00000688922.2:c.*690C>G | ENSP00000508742.2:n.*690C>G | |
| ENST00000700021.1:c.815C>G | ENSP00000514757.1:p.Ser272Ter | |
| ENST00000700022.1:c.*199C>G | ENSP00000514758.1:n.*199C>G | |
| ENST00000700023.1:n.2018C>G | ||
| ENST00000700024.1:n.2252C>G | ||
| ENST00000700025.1:n.1629C>G | ||
| ENST00000700026.1:n.497C>G | ||
| ENST00000700029.1:c.787C>G | ||
| ENST00000706954.1:c.860C>G | ENSP00000516674.1:p.Ser287Ter | |
| ENST00000706955.1:c.*895C>G | ENSP00000516675.1:n.*895C>G | |
| ENST00000686459.1:c.*446C>G | ENSP00000508909.1:n.*446C>G | |
| ENST00000688158.1:c.*971C>G | ENSP00000509254.1:n.*971C>G | |
| ENST00000688308.1:c.860C>G | ENSP00000508752.1:p.Ser287Ter | |
| ENST00000688922.1:c.781C>G | ||
| ENST00000693560.1:c.1379C>G | ENSP00000509861.1:p.Ser460Ter | |
| ENST00000371953.8:c.860C>G MANE Select | ENSP00000361021.3:p.Ser287Ter | |
| ENST00000371953.7:c.860C>G | ENSP00000361021.3:p.Ser287Ter | |
| ENST00000472832.2:c.287C>G | ENSP00000483066.1:p.Ser96Ter | |
| NM_000314.5:c.860C>G | NP_000305.3:p.Ser287Ter | |
| NM_000314.6:c.860C>G | NP_000305.3:p.Ser287Ter | |
| NM_001304717.2:c.1379C>G | NP_001291646.2:p.Ser460Ter | |
| NM_001304718.1:c.269C>G | NP_001291647.1:p.Ser90Ter | |
| XM_006717926.2:c.815C>G | XP_006717989.1:p.Ser272Ter | |
| XM_011539981.1:c.860C>G | XP_011538283.1:p.Ser287Ter | |
| XM_011539982.1:c.764C>G | XP_011538284.1:p.Ser255Ter | |
| XR_945791.1:n.1430C>G | ||
| NM_000314.7:c.860C>G | NP_000305.3:p.Ser287Ter | |
| NM_001304717.5:c.1379C>G | NP_001291646.4:p.Ser460Ter | |
| NM_001304718.2:c.269C>G | NP_001291647.1:p.Ser90Ter | |
| NM_000314.8:c.860C>G MANE Select | NP_000305.3:p.Ser287Ter |