Linked Data
ClinVar Variation Id:
428137
dbSNP Id:
rs1114167578
COSMIC:
COSM4166506
PubMed:
PMID:20223039
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839625C>G , CM000667.2:g.112839625C>G | GRCh38 |
| NC_000005.9:g.112175322C>G , CM000667.1:g.112175322C>G | GRCh37 |
| NC_000005.8:g.112203221C>G | NCBI36 |
| NG_008481.4:g.152105C>G , LRG_130:g.152105C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3696C>G | ENSP00000484935.2:n.3696C>G | |
| ENST00000504915.3:c.4085C>G | ENSP00000473355.2:p.Ser1362Ter | |
| ENST00000505350.2:c.*4037C>G | ENSP00000481752.1:n.*4037C>G | |
| ENST00000507379.6:c.3977C>G | ENSP00000423224.2:p.Ser1326Ter | |
| ENST00000509732.6:c.4031C>G | ENSP00000426541.2:p.Ser1344Ter | |
| ENST00000512211.7:c.4031C>G | ENSP00000423828.3:p.Ser1344Ter | |
| ENST00000257430.9:c.4031C>G MANE Select | ENSP00000257430.4:p.Ser1344Ter | |
| ENST00000257430.8:c.4031C>G | ENSP00000257430.4:p.Ser1344Ter | |
| ENST00000502371.2:c.2384C>G | ||
| ENST00000508376.6:c.4031C>G | ENSP00000427089.2:p.Ser1344Ter | |
| ENST00000508624.5:c.*3353C>G | ENSP00000424265.1:n.*3353C>G | |
| ENST00000520401.1:c.230+10653C>G | ||
| NM_000038.5:c.4031C>G | NP_000029.2:p.Ser1344Ter | |
| NM_001127510.2:c.4031C>G | NP_001120982.1:p.Ser1344Ter | |
| NM_001127511.2:c.3977C>G | NP_001120983.2:p.Ser1326Ter | |
| NM_001354895.1:c.4031C>G | NP_001341824.1:p.Ser1344Ter | |
| NM_001354896.1:c.4085C>G | NP_001341825.1:p.Ser1362Ter | |
| NM_001354897.1:c.4061C>G | NP_001341826.1:p.Ser1354Ter | |
| NM_001354898.1:c.3956C>G | NP_001341827.1:p.Ser1319Ter | |
| NM_001354899.1:c.3947C>G | NP_001341828.1:p.Ser1316Ter | |
| NM_001354900.1:c.3908C>G | NP_001341829.1:p.Ser1303Ter | |
| NM_001354901.1:c.3854C>G | NP_001341830.1:p.Ser1285Ter | |
| NM_001354902.1:c.3758C>G | NP_001341831.1:p.Ser1253Ter | |
| NM_001354903.1:c.3728C>G | NP_001341832.1:p.Ser1243Ter | |
| NM_001354904.1:c.3653C>G | NP_001341833.1:p.Ser1218Ter | |
| NM_001354905.1:c.3551C>G | NP_001341834.1:p.Ser1184Ter | |
| NM_001354906.1:c.3182C>G | NP_001341835.1:p.Ser1061Ter | |
| NM_000038.6:c.4031C>G MANE Select | NP_000029.2:p.Ser1344Ter | |
| NM_001127510.3:c.4031C>G | NP_001120982.1:p.Ser1344Ter | |
| NM_001127511.3:c.3977C>G | NP_001120983.2:p.Ser1326Ter | |
| NM_001354895.2:c.4031C>G | NP_001341824.1:p.Ser1344Ter | |
| NM_001354896.2:c.4085C>G | NP_001341825.1:p.Ser1362Ter | |
| NM_001354897.2:c.4061C>G | NP_001341826.1:p.Ser1354Ter | |
| NM_001354898.2:c.3956C>G | NP_001341827.1:p.Ser1319Ter | |
| NM_001354899.2:c.3947C>G | NP_001341828.1:p.Ser1316Ter | |
| NM_001354900.2:c.3908C>G | NP_001341829.1:p.Ser1303Ter | |
| NM_001354901.2:c.3854C>G | NP_001341830.1:p.Ser1285Ter | |
| NM_001354902.2:c.3758C>G | NP_001341831.1:p.Ser1253Ter | |
| NM_001354903.2:c.3728C>G | NP_001341832.1:p.Ser1243Ter | |
| NM_001354904.2:c.3653C>G | NP_001341833.1:p.Ser1218Ter | |
| NM_001354905.2:c.3551C>G | NP_001341834.1:p.Ser1184Ter | |
| NM_001354906.2:c.3182C>G | NP_001341835.1:p.Ser1061Ter |