Linked Data
ClinVar Variation Id:
7144
dbSNP Id:
rs79850223
ExAC:
7:117267579 C / T
gnomAD v2:
7-117267579-C-T
gnomAD v3:
7-117627525-C-T
gnomAD v4:
7-117627525-C-T
COSMIC:
COSM6224747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627525C>T , CM000669.2:g.117627525C>T | GRCh38 |
| NC_000007.13:g.117267579C>T , CM000669.1:g.117267579C>T | GRCh37 |
| NC_000007.12:g.117054815C>T | NCBI36 |
| NG_016465.4:g.166742C>T , LRG_663:g.166742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3472C>T | ENSP00000497673.2:p.Arg1158Ter | |
| ENST00000647978.2:c.*3186C>T | ENSP00000497658.1:n.*3186C>T | |
| ENST00000649781.2:c.3289C>T | ENSP00000497203.1:p.Arg1097Ter | |
| ENST00000685018.2:c.3472C>T | ENSP00000510194.2:p.Arg1158Ter | |
| ENST00000687278.2:c.*125C>T | ENSP00000509593.2:n.*125C>T | |
| ENST00000699585.1:c.3472C>T | ENSP00000514456.1:p.Arg1158Ter | |
| ENST00000699598.1:c.3472C>T | ENSP00000514467.1:p.Arg1158Ter | |
| ENST00000699599.1:c.3472C>T | ENSP00000514468.1:p.Arg1158Ter | |
| ENST00000699600.1:c.*133C>T | ENSP00000514469.1:n.*133C>T | |
| ENST00000699601.1:c.*1847C>T | ENSP00000514470.1:n.*1847C>T | |
| ENST00000699602.1:c.3466C>T | ENSP00000514471.1:p.Arg1156Ter | |
| ENST00000699604.1:c.*3296C>T | ENSP00000514472.1:n.*3296C>T | |
| ENST00000699605.1:c.3046C>T | ENSP00000514473.1:p.Arg1016Ter | |
| ENST00000685018.1:c.220C>T | ENSP00000510194.1:p.Arg74Ter | |
| ENST00000687278.1:c.1259C>T | ENSP00000509593.1:n.1259C>T | |
| ENST00000689011.1:c.54C>T | ||
| ENST00000003084.11:c.3472C>T MANE Select | ENSP00000003084.6:p.Arg1158Ter | |
| ENST00000647720.1:c.1122C>T | ||
| ENST00000648260.1:c.2254C>T | ENSP00000497957.1:p.Arg752Ter | |
| ENST00000649406.1:c.3289C>T | ENSP00000497965.1:p.Arg1097Ter | |
| ENST00000649781.1:c.3289C>T | ENSP00000497203.1:p.Arg1097Ter | |
| ENST00000003084.10:c.3472C>T | ENSP00000003084.6:p.Arg1158Ter | |
| ENST00000426809.5:c.3382C>T | ENSP00000389119.1:p.Arg1128Ter | |
| ENST00000468795.1:c.297C>T | ||
| NM_000492.3:c.3472C>T , LRG_663t1:c.3472C>T | NP_000483.3:p.Arg1158Ter | |
| XM_011515751.1:c.3562C>T | XP_011514053.1:p.Arg1188Ter | |
| XM_011515752.1:c.3562C>T | XP_011514054.1:p.Arg1188Ter | |
| XM_011515753.1:c.3229C>T | XP_011514055.1:p.Arg1077Ter | |
| XM_011515754.1:c.3229C>T | XP_011514056.1:p.Arg1077Ter | |
| NM_000492.4:c.3472C>T MANE Select | NP_000483.3:p.Arg1158Ter |