Linked Data
ClinVar Variation Id:
428122
dbSNP Id:
rs1114167568
COSMIC:
COSM19048
PubMed:
PMID:23159591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839651G>T , CM000667.2:g.112839651G>T | GRCh38 |
| NC_000005.9:g.112175348G>T , CM000667.1:g.112175348G>T | GRCh37 |
| NC_000005.8:g.112203247G>T | NCBI36 |
| NG_008481.4:g.152131G>T , LRG_130:g.152131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3722G>T | ENSP00000484935.2:n.3722G>T | |
| ENST00000504915.3:c.4111G>T | ENSP00000473355.2:p.Glu1371Ter | |
| ENST00000505350.2:c.*4063G>T | ENSP00000481752.1:n.*4063G>T | |
| ENST00000507379.6:c.4003G>T | ENSP00000423224.2:p.Glu1335Ter | |
| ENST00000509732.6:c.4057G>T | ENSP00000426541.2:p.Glu1353Ter | |
| ENST00000512211.7:c.4057G>T | ENSP00000423828.3:p.Glu1353Ter | |
| ENST00000257430.9:c.4057G>T MANE Select | ENSP00000257430.4:p.Glu1353Ter | |
| ENST00000257430.8:c.4057G>T | ENSP00000257430.4:p.Glu1353Ter | |
| ENST00000502371.2:c.2410G>T | ||
| ENST00000508376.6:c.4057G>T | ENSP00000427089.2:p.Glu1353Ter | |
| ENST00000508624.5:c.*3379G>T | ENSP00000424265.1:n.*3379G>T | |
| ENST00000520401.1:c.230+10679G>T | ||
| NM_000038.5:c.4057G>T | NP_000029.2:p.Glu1353Ter | |
| NM_001127510.2:c.4057G>T | NP_001120982.1:p.Glu1353Ter | |
| NM_001127511.2:c.4003G>T | NP_001120983.2:p.Glu1335Ter | |
| NM_001354895.1:c.4057G>T | NP_001341824.1:p.Glu1353Ter | |
| NM_001354896.1:c.4111G>T | NP_001341825.1:p.Glu1371Ter | |
| NM_001354897.1:c.4087G>T | NP_001341826.1:p.Glu1363Ter | |
| NM_001354898.1:c.3982G>T | NP_001341827.1:p.Glu1328Ter | |
| NM_001354899.1:c.3973G>T | NP_001341828.1:p.Glu1325Ter | |
| NM_001354900.1:c.3934G>T | NP_001341829.1:p.Glu1312Ter | |
| NM_001354901.1:c.3880G>T | NP_001341830.1:p.Glu1294Ter | |
| NM_001354902.1:c.3784G>T | NP_001341831.1:p.Glu1262Ter | |
| NM_001354903.1:c.3754G>T | NP_001341832.1:p.Glu1252Ter | |
| NM_001354904.1:c.3679G>T | NP_001341833.1:p.Glu1227Ter | |
| NM_001354905.1:c.3577G>T | NP_001341834.1:p.Glu1193Ter | |
| NM_001354906.1:c.3208G>T | NP_001341835.1:p.Glu1070Ter | |
| NM_000038.6:c.4057G>T MANE Select | NP_000029.2:p.Glu1353Ter | |
| NM_001127510.3:c.4057G>T | NP_001120982.1:p.Glu1353Ter | |
| NM_001127511.3:c.4003G>T | NP_001120983.2:p.Glu1335Ter | |
| NM_001354895.2:c.4057G>T | NP_001341824.1:p.Glu1353Ter | |
| NM_001354896.2:c.4111G>T | NP_001341825.1:p.Glu1371Ter | |
| NM_001354897.2:c.4087G>T | NP_001341826.1:p.Glu1363Ter | |
| NM_001354898.2:c.3982G>T | NP_001341827.1:p.Glu1328Ter | |
| NM_001354899.2:c.3973G>T | NP_001341828.1:p.Glu1325Ter | |
| NM_001354900.2:c.3934G>T | NP_001341829.1:p.Glu1312Ter | |
| NM_001354901.2:c.3880G>T | NP_001341830.1:p.Glu1294Ter | |
| NM_001354902.2:c.3784G>T | NP_001341831.1:p.Glu1262Ter | |
| NM_001354903.2:c.3754G>T | NP_001341832.1:p.Glu1252Ter | |
| NM_001354904.2:c.3679G>T | NP_001341833.1:p.Glu1227Ter | |
| NM_001354905.2:c.3577G>T | NP_001341834.1:p.Glu1193Ter | |
| NM_001354906.2:c.3208G>T | NP_001341835.1:p.Glu1070Ter |