Linked Data
ClinVar Variation Id:
808
dbSNP Id:
rs137854574
gnomAD v4:
5-112828919-C-T
COSMIC:
COSM18848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112828919C>T , CM000667.2:g.112828919C>T | GRCh38 |
| NC_000005.9:g.112164616C>T , CM000667.1:g.112164616C>T | GRCh37 |
| NC_000005.8:g.112192515C>T | NCBI36 |
| NG_008481.4:g.141399C>T , LRG_130:g.141399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1409-6032C>T | ENSP00000484935.2:n.1409-6032C>T | |
| ENST00000504915.3:c.1744C>T | ENSP00000473355.2:p.Arg582Ter | |
| ENST00000505084.2:n.1746C>T | ||
| ENST00000505350.2:c.*1696C>T | ENSP00000481752.1:n.*1696C>T | |
| ENST00000507379.6:c.1636C>T | ENSP00000423224.2:p.Arg546Ter | |
| ENST00000509732.6:c.1690C>T | ENSP00000426541.2:p.Arg564Ter | |
| ENST00000512211.7:c.1690C>T | ENSP00000423828.3:p.Arg564Ter | |
| ENST00000257430.9:c.1690C>T MANE Select | ENSP00000257430.4:p.Arg564Ter | |
| ENST00000257430.8:c.1690C>T | ENSP00000257430.4:p.Arg564Ter | |
| ENST00000502371.2:c.97-6032C>T | ||
| ENST00000504915.2:c.379C>T | ENSP00000473355.1:p.Arg127Ter | |
| ENST00000505084.1:n.177C>T | ||
| ENST00000507379.5:c.1636C>T | ENSP00000423224.1:p.Arg546Ter | |
| ENST00000508376.6:c.1690C>T | ENSP00000427089.2:p.Arg564Ter | |
| ENST00000508624.5:c.*1012C>T | ENSP00000424265.1:n.*1012C>T | |
| ENST00000512211.6:c.1690C>T | ENSP00000423828.2:p.Arg564Ter | |
| ENST00000520401.1:c.177C>T | ||
| NM_000038.5:c.1690C>T | NP_000029.2:p.Arg564Ter | |
| NM_001127510.2:c.1690C>T | NP_001120982.1:p.Arg564Ter | |
| NM_001127511.2:c.1636C>T | NP_001120983.2:p.Arg546Ter | |
| NM_001354895.1:c.1690C>T | NP_001341824.1:p.Arg564Ter | |
| NM_001354896.1:c.1744C>T | NP_001341825.1:p.Arg582Ter | |
| NM_001354897.1:c.1720C>T | NP_001341826.1:p.Arg574Ter | |
| NM_001354898.1:c.1615C>T | NP_001341827.1:p.Arg539Ter | |
| NM_001354899.1:c.1606C>T | NP_001341828.1:p.Arg536Ter | |
| NM_001354900.1:c.1567C>T | NP_001341829.1:p.Arg523Ter | |
| NM_001354901.1:c.1513C>T | NP_001341830.1:p.Arg505Ter | |
| NM_001354902.1:c.1417C>T | NP_001341831.1:p.Arg473Ter | |
| NM_001354903.1:c.1387C>T | NP_001341832.1:p.Arg463Ter | |
| NM_001354904.1:c.1312C>T | NP_001341833.1:p.Arg438Ter | |
| NM_001354905.1:c.1210C>T | NP_001341834.1:p.Arg404Ter | |
| NM_001354906.1:c.841C>T | NP_001341835.1:p.Arg281Ter | |
| NM_000038.6:c.1690C>T MANE Select | NP_000029.2:p.Arg564Ter | |
| NM_001127510.3:c.1690C>T | NP_001120982.1:p.Arg564Ter | |
| NM_001127511.3:c.1636C>T | NP_001120983.2:p.Arg546Ter | |
| NM_001354895.2:c.1690C>T | NP_001341824.1:p.Arg564Ter | |
| NM_001354896.2:c.1744C>T | NP_001341825.1:p.Arg582Ter | |
| NM_001354897.2:c.1720C>T | NP_001341826.1:p.Arg574Ter | |
| NM_001354898.2:c.1615C>T | NP_001341827.1:p.Arg539Ter | |
| NM_001354899.2:c.1606C>T | NP_001341828.1:p.Arg536Ter | |
| NM_001354900.2:c.1567C>T | NP_001341829.1:p.Arg523Ter | |
| NM_001354901.2:c.1513C>T | NP_001341830.1:p.Arg505Ter | |
| NM_001354902.2:c.1417C>T | NP_001341831.1:p.Arg473Ter | |
| NM_001354903.2:c.1387C>T | NP_001341832.1:p.Arg463Ter | |
| NM_001354904.2:c.1312C>T | NP_001341833.1:p.Arg438Ter | |
| NM_001354905.2:c.1210C>T | NP_001341834.1:p.Arg404Ter | |
| NM_001354906.2:c.841C>T | NP_001341835.1:p.Arg281Ter |