Linked Data
ClinVar Variation Id:
30250
ClinVar RCV Id:
RCV000023174
dbSNP Id:
rs387906833
ExAC:
10:27826978 T / C
gnomAD v2:
10-27826978-T-C
gnomAD v4:
10-27538049-T-C
COSMIC:
COSM5588775
PubMed:
PMID:21473985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27538049T>C , CM000672.2:g.27538049T>C | GRCh38 |
| NC_000010.10:g.27826978T>C , CM000672.1:g.27826978T>C | GRCh37 |
| NC_000010.9:g.27866984T>C | NCBI36 |
| NG_032035.1:g.38876T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535776.6:c.*152T>C | ENSP00000439321.2:n.*152T>C | |
| ENST00000611151.5:c.*407T>C | ENSP00000483927.2:n.*407T>C | |
| ENST00000621805.5:c.706T>C | ENSP00000478479.1:p.Ter236Gln | |
| ENST00000682082.1:c.619T>C | ENSP00000507542.1:p.Ter207Gln | |
| ENST00000682173.1:c.297T>C | ||
| ENST00000682181.1:c.*924T>C | ENSP00000507392.1:n.*924T>C | |
| ENST00000682347.1:c.67+4055T>C | ENSP00000508355.1:n.67+4055T>C | |
| ENST00000682389.1:c.427T>C | ENSP00000507154.1:p.Ter143Gln | |
| ENST00000682518.1:n.634T>C | ||
| ENST00000682668.1:c.972T>C | ||
| ENST00000682777.1:n.1786T>C | ||
| ENST00000682852.1:c.*464T>C | ENSP00000508341.1:n.*464T>C | |
| ENST00000682963.1:c.268T>C | ENSP00000507532.1:p.Ter90Gln | |
| ENST00000683030.1:c.150+24T>C | ||
| ENST00000683042.1:n.777T>C | ||
| ENST00000683385.1:n.526T>C | ||
| ENST00000683419.1:c.*340T>C | ENSP00000508094.1:n.*340T>C | |
| ENST00000683446.1:n.552T>C | ||
| ENST00000683538.1:c.976T>C | ||
| ENST00000683755.1:c.*207T>C | ENSP00000506993.1:n.*207T>C | |
| ENST00000683816.1:c.*542T>C | ENSP00000507834.1:n.*542T>C | |
| ENST00000683915.1:c.153+21T>C | ||
| ENST00000683924.1:c.407T>C | ENSP00000507963.1:n.407T>C | |
| ENST00000684134.1:n.5579T>C | ||
| ENST00000684191.1:c.68-3953T>C | ENSP00000508185.1:n.68-3953T>C | |
| ENST00000684393.1:c.*924T>C | ENSP00000507136.1:n.*924T>C | |
| ENST00000684457.1:c.150+24T>C | ||
| ENST00000684501.1:c.552T>C | ENSP00000507589.1:p.Tyr184= | |
| ENST00000356940.11:c.619T>C MANE Select | ENSP00000349415.7:p.Ter207Gln | |
| ENST00000356940.10:c.619T>C | ENSP00000349415.6:p.Ter207Gln | |
| ENST00000375802.7:c.484T>C | ENSP00000364960.3:p.Ter162Gln | |
| ENST00000465772.5:n.545T>C | ||
| ENST00000535776.5:c.427T>C | ENSP00000439321.1:p.Ter143Gln | |
| ENST00000611151.4:c.547T>C | ENSP00000483927.1:p.Ter183Gln | |
| ENST00000621805.4:c.706T>C | ENSP00000478479.1:p.Ter236Gln | |
| NM_001256410.1:c.706T>C | NP_001243339.1:p.Ter236Gln | |
| NM_001256411.1:c.552T>C | NP_001243340.1:p.Tyr184= | |
| NM_001256412.1:c.427T>C | NP_001243341.1:p.Ter143Gln | |
| NM_001256415.1:c.547T>C | NP_001243344.1:p.Ter183Gln | |
| NM_021252.4:c.619T>C | NP_067075.1:p.Ter207Gln | |
| NR_046172.1:n.753T>C | ||
| NM_001256410.2:c.706T>C | NP_001243339.1:p.Ter236Gln | |
| NM_001256411.2:c.552T>C | NP_001243340.1:p.Tyr184= | |
| NM_001256412.2:c.427T>C | NP_001243341.1:p.Ter143Gln | |
| NM_001256415.2:c.547T>C | NP_001243344.1:p.Ter183Gln | |
| NM_021252.5:c.619T>C MANE Select | NP_067075.1:p.Ter207Gln | |
| NR_046172.2:n.623T>C |