Linked Data
ClinVar Variation Id:
92340
dbSNP Id:
rs398123116
COSMIC:
COSM5487109
PubMed:
PMID:1319838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828888G>A , CM000667.2:g.112828888G>A | GRCh38 |
| NC_000005.9:g.112164585G>A , CM000667.1:g.112164585G>A | GRCh37 |
| NC_000005.8:g.112192484G>A | NCBI36 |
| NG_008481.4:g.141368G>A , LRG_130:g.141368G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1409-6063G>A | ENSP00000484935.2:n.1409-6063G>A | |
| ENST00000504915.3:c.1713G>A | ENSP00000473355.2:p.Trp571Ter | |
| ENST00000505084.2:n.1715G>A | ||
| ENST00000505350.2:c.*1665G>A | ENSP00000481752.1:n.*1665G>A | |
| ENST00000507379.6:c.1605G>A | ENSP00000423224.2:p.Trp535Ter | |
| ENST00000509732.6:c.1659G>A | ENSP00000426541.2:p.Trp553Ter | |
| ENST00000512211.7:c.1659G>A | ENSP00000423828.3:p.Trp553Ter | |
| ENST00000257430.9:c.1659G>A MANE Select | ENSP00000257430.4:p.Trp553Ter | |
| ENST00000257430.8:c.1659G>A | ENSP00000257430.4:p.Trp553Ter | |
| ENST00000502371.2:c.97-6063G>A | ||
| ENST00000504915.2:c.348G>A | ENSP00000473355.1:p.Trp116Ter | |
| ENST00000505084.1:n.146G>A | ||
| ENST00000507379.5:c.1605G>A | ENSP00000423224.1:p.Trp535Ter | |
| ENST00000508376.6:c.1659G>A | ENSP00000427089.2:p.Trp553Ter | |
| ENST00000508624.5:c.*981G>A | ENSP00000424265.1:n.*981G>A | |
| ENST00000512211.6:c.1659G>A | ENSP00000423828.2:p.Trp553Ter | |
| ENST00000520401.1:c.146G>A | ||
| NM_000038.5:c.1659G>A | NP_000029.2:p.Trp553Ter | |
| NM_001127510.2:c.1659G>A | NP_001120982.1:p.Trp553Ter | |
| NM_001127511.2:c.1605G>A | NP_001120983.2:p.Trp535Ter | |
| NM_001354895.1:c.1659G>A | NP_001341824.1:p.Trp553Ter | |
| NM_001354896.1:c.1713G>A | NP_001341825.1:p.Trp571Ter | |
| NM_001354897.1:c.1689G>A | NP_001341826.1:p.Trp563Ter | |
| NM_001354898.1:c.1584G>A | NP_001341827.1:p.Trp528Ter | |
| NM_001354899.1:c.1575G>A | NP_001341828.1:p.Trp525Ter | |
| NM_001354900.1:c.1536G>A | NP_001341829.1:p.Trp512Ter | |
| NM_001354901.1:c.1482G>A | NP_001341830.1:p.Trp494Ter | |
| NM_001354902.1:c.1386G>A | NP_001341831.1:p.Trp462Ter | |
| NM_001354903.1:c.1356G>A | NP_001341832.1:p.Trp452Ter | |
| NM_001354904.1:c.1281G>A | NP_001341833.1:p.Trp427Ter | |
| NM_001354905.1:c.1179G>A | NP_001341834.1:p.Trp393Ter | |
| NM_001354906.1:c.810G>A | NP_001341835.1:p.Trp270Ter | |
| NM_000038.6:c.1659G>A MANE Select | NP_000029.2:p.Trp553Ter | |
| NM_001127510.3:c.1659G>A | NP_001120982.1:p.Trp553Ter | |
| NM_001127511.3:c.1605G>A | NP_001120983.2:p.Trp535Ter | |
| NM_001354895.2:c.1659G>A | NP_001341824.1:p.Trp553Ter | |
| NM_001354896.2:c.1713G>A | NP_001341825.1:p.Trp571Ter | |
| NM_001354897.2:c.1689G>A | NP_001341826.1:p.Trp563Ter | |
| NM_001354898.2:c.1584G>A | NP_001341827.1:p.Trp528Ter | |
| NM_001354899.2:c.1575G>A | NP_001341828.1:p.Trp525Ter | |
| NM_001354900.2:c.1536G>A | NP_001341829.1:p.Trp512Ter | |
| NM_001354901.2:c.1482G>A | NP_001341830.1:p.Trp494Ter | |
| NM_001354902.2:c.1386G>A | NP_001341831.1:p.Trp462Ter | |
| NM_001354903.2:c.1356G>A | NP_001341832.1:p.Trp452Ter | |
| NM_001354904.2:c.1281G>A | NP_001341833.1:p.Trp427Ter | |
| NM_001354905.2:c.1179G>A | NP_001341834.1:p.Trp393Ter | |
| NM_001354906.2:c.810G>A | NP_001341835.1:p.Trp270Ter |