Linked Data
ClinVar Variation Id:
411387
dbSNP Id:
rs1060503282
gnomAD v4:
5-112837691-G-A
COSMIC:
COSM1432194
PubMed:
PMID:20685668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112837691G>A , CM000667.2:g.112837691G>A | GRCh38 |
| NC_000005.9:g.112173388G>A , CM000667.1:g.112173388G>A | GRCh37 |
| NC_000005.8:g.112201287G>A | NCBI36 |
| NG_008481.4:g.150171G>A , LRG_130:g.150171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1762G>A | ENSP00000484935.2:n.1762G>A | |
| ENST00000504915.3:c.2151G>A | ENSP00000473355.2:p.Trp717Ter | |
| ENST00000505350.2:c.*2103G>A | ENSP00000481752.1:n.*2103G>A | |
| ENST00000507379.6:c.2043G>A | ENSP00000423224.2:p.Trp681Ter | |
| ENST00000509732.6:c.2097G>A | ENSP00000426541.2:p.Trp699Ter | |
| ENST00000512211.7:c.2097G>A | ENSP00000423828.3:p.Trp699Ter | |
| ENST00000257430.9:c.2097G>A MANE Select | ENSP00000257430.4:p.Trp699Ter | |
| ENST00000257430.8:c.2097G>A | ENSP00000257430.4:p.Trp699Ter | |
| ENST00000502371.2:c.450G>A | ||
| ENST00000504915.2:c.786G>A | ENSP00000473355.1:p.Trp262Ter | |
| ENST00000507379.5:c.2043G>A | ENSP00000423224.1:p.Trp681Ter | |
| ENST00000508376.6:c.2097G>A | ENSP00000427089.2:p.Trp699Ter | |
| ENST00000508624.5:c.*1419G>A | ENSP00000424265.1:n.*1419G>A | |
| ENST00000512211.6:c.2097G>A | ENSP00000423828.2:p.Trp699Ter | |
| ENST00000520401.1:c.230+8719G>A | ||
| NM_000038.5:c.2097G>A | NP_000029.2:p.Trp699Ter | |
| NM_001127510.2:c.2097G>A | NP_001120982.1:p.Trp699Ter | |
| NM_001127511.2:c.2043G>A | NP_001120983.2:p.Trp681Ter | |
| NM_001354895.1:c.2097G>A | NP_001341824.1:p.Trp699Ter | |
| NM_001354896.1:c.2151G>A | NP_001341825.1:p.Trp717Ter | |
| NM_001354897.1:c.2127G>A | NP_001341826.1:p.Trp709Ter | |
| NM_001354898.1:c.2022G>A | NP_001341827.1:p.Trp674Ter | |
| NM_001354899.1:c.2013G>A | NP_001341828.1:p.Trp671Ter | |
| NM_001354900.1:c.1974G>A | NP_001341829.1:p.Trp658Ter | |
| NM_001354901.1:c.1920G>A | NP_001341830.1:p.Trp640Ter | |
| NM_001354902.1:c.1824G>A | NP_001341831.1:p.Trp608Ter | |
| NM_001354903.1:c.1794G>A | NP_001341832.1:p.Trp598Ter | |
| NM_001354904.1:c.1719G>A | NP_001341833.1:p.Trp573Ter | |
| NM_001354905.1:c.1617G>A | NP_001341834.1:p.Trp539Ter | |
| NM_001354906.1:c.1248G>A | NP_001341835.1:p.Trp416Ter | |
| NM_000038.6:c.2097G>A MANE Select | NP_000029.2:p.Trp699Ter | |
| NM_001127510.3:c.2097G>A | NP_001120982.1:p.Trp699Ter | |
| NM_001127511.3:c.2043G>A | NP_001120983.2:p.Trp681Ter | |
| NM_001354895.2:c.2097G>A | NP_001341824.1:p.Trp699Ter | |
| NM_001354896.2:c.2151G>A | NP_001341825.1:p.Trp717Ter | |
| NM_001354897.2:c.2127G>A | NP_001341826.1:p.Trp709Ter | |
| NM_001354898.2:c.2022G>A | NP_001341827.1:p.Trp674Ter | |
| NM_001354899.2:c.2013G>A | NP_001341828.1:p.Trp671Ter | |
| NM_001354900.2:c.1974G>A | NP_001341829.1:p.Trp658Ter | |
| NM_001354901.2:c.1920G>A | NP_001341830.1:p.Trp640Ter | |
| NM_001354902.2:c.1824G>A | NP_001341831.1:p.Trp608Ter | |
| NM_001354903.2:c.1794G>A | NP_001341832.1:p.Trp598Ter | |
| NM_001354904.2:c.1719G>A | NP_001341833.1:p.Trp573Ter | |
| NM_001354905.2:c.1617G>A | NP_001341834.1:p.Trp539Ter | |
| NM_001354906.2:c.1248G>A | NP_001341835.1:p.Trp416Ter |