Linked Data
ClinVar Variation Id:
798
ClinVar RCV Id:
RCV000000834
RCV000000835
RCV000077996
RCV000164370
RCV000210154
RCV000499742
RCV003337225
RCV003996069
dbSNP Id:
rs137854568
COSMIC:
COSM13862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112815564C>T , CM000667.2:g.112815564C>T | GRCh38 |
| NC_000005.9:g.112151261C>T , CM000667.1:g.112151261C>T | GRCh37 |
| NC_000005.8:g.112179160C>T | NCBI36 |
| NG_008481.4:g.128044C>T , LRG_130:g.128044C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.904C>T | ENSP00000484935.2:p.Arg302Ter | |
| ENST00000504915.3:c.904C>T | ENSP00000473355.2:p.Arg302Ter | |
| ENST00000505084.2:n.960C>T | ||
| ENST00000505350.2:c.*910C>T | ENSP00000481752.1:n.*910C>T | |
| ENST00000507379.6:c.850C>T | ENSP00000423224.2:p.Arg284Ter | |
| ENST00000509732.6:c.904C>T | ENSP00000426541.2:p.Arg302Ter | |
| ENST00000512211.7:c.904C>T | ENSP00000423828.3:p.Arg302Ter | |
| ENST00000257430.9:c.904C>T MANE Select | ENSP00000257430.4:p.Arg302Ter | |
| ENST00000257430.8:c.904C>T | ENSP00000257430.4:p.Arg302Ter | |
| ENST00000507379.5:c.850C>T | ENSP00000423224.1:p.Arg284Ter | |
| ENST00000508376.6:c.904C>T | ENSP00000427089.2:p.Arg302Ter | |
| ENST00000508624.5:c.*226C>T | ENSP00000424265.1:n.*226C>T | |
| ENST00000512211.6:c.904C>T | ENSP00000423828.2:p.Arg302Ter | |
| NM_000038.5:c.904C>T | NP_000029.2:p.Arg302Ter | |
| NM_001127510.2:c.904C>T | NP_001120982.1:p.Arg302Ter | |
| NM_001127511.2:c.850C>T | NP_001120983.2:p.Arg284Ter | |
| NM_001354895.1:c.904C>T | NP_001341824.1:p.Arg302Ter | |
| NM_001354896.1:c.904C>T | NP_001341825.1:p.Arg302Ter | |
| NM_001354897.1:c.934C>T | NP_001341826.1:p.Arg312Ter | |
| NM_001354898.1:c.829C>T | NP_001341827.1:p.Arg277Ter | |
| NM_001354899.1:c.820C>T | NP_001341828.1:p.Arg274Ter | |
| NM_001354900.1:c.727C>T | NP_001341829.1:p.Arg243Ter | |
| NM_001354901.1:c.727C>T | NP_001341830.1:p.Arg243Ter | |
| NM_001354902.1:c.934C>T | NP_001341831.1:p.Arg312Ter | |
| NM_001354903.1:c.904C>T | NP_001341832.1:p.Arg302Ter | |
| NM_001354904.1:c.829C>T | NP_001341833.1:p.Arg277Ter | |
| NM_001354905.1:c.727C>T | NP_001341834.1:p.Arg243Ter | |
| NM_001354906.1:c.55C>T | NP_001341835.1:p.Arg19Ter | |
| NM_000038.6:c.904C>T MANE Select | NP_000029.2:p.Arg302Ter | |
| NM_001127510.3:c.904C>T | NP_001120982.1:p.Arg302Ter | |
| NM_001127511.3:c.850C>T | NP_001120983.2:p.Arg284Ter | |
| NM_001354895.2:c.904C>T | NP_001341824.1:p.Arg302Ter | |
| NM_001354896.2:c.904C>T | NP_001341825.1:p.Arg302Ter | |
| NM_001354897.2:c.934C>T | NP_001341826.1:p.Arg312Ter | |
| NM_001354898.2:c.829C>T | NP_001341827.1:p.Arg277Ter | |
| NM_001354899.2:c.820C>T | NP_001341828.1:p.Arg274Ter | |
| NM_001354900.2:c.727C>T | NP_001341829.1:p.Arg243Ter | |
| NM_001354901.2:c.727C>T | NP_001341830.1:p.Arg243Ter | |
| NM_001354902.2:c.934C>T | NP_001341831.1:p.Arg312Ter | |
| NM_001354903.2:c.904C>T | NP_001341832.1:p.Arg302Ter | |
| NM_001354904.2:c.829C>T | NP_001341833.1:p.Arg277Ter | |
| NM_001354905.2:c.727C>T | NP_001341834.1:p.Arg243Ter | |
| NM_001354906.2:c.55C>T | NP_001341835.1:p.Arg19Ter |