Linked Data
ClinVar Variation Id:
142888
dbSNP Id:
rs587782798
COSMIC:
COSM3818350
PubMed:
PMID:23709761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68813322C>T , CM000678.2:g.68813322C>T | GRCh38 |
| NC_000016.9:g.68847225C>T , CM000678.1:g.68847225C>T | GRCh37 |
| NC_000016.8:g.67404726C>T | NCBI36 |
| NG_008021.1:g.81031C>T , LRG_301:g.81031C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1147C>T MANE Select | ENSP00000261769.4:p.Gln383Ter | |
| ENST00000261769.9:c.1147C>T | ENSP00000261769.4:p.Gln383Ter | |
| ENST00000422392.6:c.1137+1059C>T | ENSP00000414946.2:n.1137+1059C>T | |
| ENST00000562836.5:n.1218C>T | ||
| ENST00000565810.1:n.191C>T | ||
| ENST00000566510.5:c.991C>T | ENSP00000458139.1:p.Gln331Ter | |
| ENST00000566612.5:c.1147C>T | ENSP00000454782.1:p.Gln383Ter | |
| ENST00000611625.4:c.1147C>T | ENSP00000481063.1:p.Gln383Ter | |
| ENST00000612417.4:c.1147C>T | ENSP00000478360.1:p.Gln383Ter | |
| ENST00000621016.4:c.1147C>T | ENSP00000480664.1:p.Gln383Ter | |
| NM_004360.3:c.1147C>T , LRG_301t1:c.1147C>T | NP_004351.1:p.Gln383Ter | |
| XM_011523488.1:c.412C>T | XP_011521790.1:p.Gln138Ter | |
| XM_011523489.1:c.412C>T | XP_011521791.1:p.Gln138Ter | |
| NM_001317184.1:c.1137+1059C>T | NP_001304113.1:n.1137+1059C>T | |
| NM_001317185.1:c.-469C>T | NP_001304114.1:n.-469C>T | |
| NM_001317186.1:c.-673C>T | NP_001304115.1:n.-673C>T | |
| NM_004360.4:c.1147C>T | NP_004351.1:p.Gln383Ter | |
| NM_004360.5:c.1147C>T MANE Select | NP_004351.1:p.Gln383Ter | |
| NM_001317184.2:c.1137+1059C>T | NP_001304113.1:n.1137+1059C>T | |
| NM_001317185.2:c.-469C>T | NP_001304114.1:n.-469C>T | |
| NM_001317186.2:c.-673C>T | NP_001304115.1:n.-673C>T |