Linked Data
ClinVar Variation Id:
1114373
ClinVar RCV Id:
RCV001442029
dbSNP Id:
rs1855574394
MyVariant Identifiers:
chr11:g.6637238G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616007G>A , CM000673.2:g.6616007G>A | GRCh38 |
| NC_000011.9:g.6637238G>A , CM000673.1:g.6637238G>A | GRCh37 |
| NC_000011.8:g.6593814G>A | NCBI36 |
| NG_008653.1:g.8455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1029C>T | ENSP00000507321.1:p.Ser343= | |
| ENST00000299427.12:c.1143C>T MANE Select | ENSP00000299427.6:p.Ser381= | |
| ENST00000436873.7:c.380C>T | ||
| ENST00000524924.2:n.263C>T | ||
| ENST00000533371.6:c.414C>T | ENSP00000437066.1:p.Ser138= | |
| ENST00000642892.1:c.414C>T | ENSP00000494165.1:p.Ser138= | |
| ENST00000643342.1:c.233C>T | ||
| ENST00000643439.1:c.*883C>T | ENSP00000495849.1:n.*883C>T | |
| ENST00000643479.1:n.1329C>T | ||
| ENST00000643516.1:c.652C>T | ||
| ENST00000644218.1:c.954C>T | ENSP00000493574.1:p.Ser318= | |
| ENST00000644683.1:c.*596C>T | ENSP00000494085.1:n.*596C>T | |
| ENST00000644810.1:c.864C>T | ENSP00000495895.1:p.Ser288= | |
| ENST00000644831.1:n.1319C>T | ||
| ENST00000644933.1:c.414C>T | ENSP00000496133.1:p.Ser138= | |
| ENST00000645285.1:c.225C>T | ENSP00000495058.1:p.Ser75= | |
| ENST00000645331.1:n.1906C>T | ||
| ENST00000645620.1:c.414C>T | ENSP00000493657.1:p.Ser138= | |
| ENST00000646691.1:n.476C>T | ||
| ENST00000646777.1:n.1476C>T | ||
| ENST00000647016.1:n.1623C>T | ||
| ENST00000647152.1:c.414C>T | ENSP00000495893.1:p.Ser138= | |
| ENST00000647209.1:c.*1012C>T | ENSP00000495558.1:n.*1012C>T | |
| ENST00000647346.1:n.2163C>T | ||
| ENST00000299427.10:c.1143C>T | ENSP00000299427.6:p.Ser381= | |
| ENST00000524924.1:n.98C>T | ||
| ENST00000533371.5:c.414C>T | ENSP00000437066.1:p.Ser138= | |
| ENST00000611494.4:c.1143C>T | ENSP00000484546.1:p.Ser381= | |
| NM_000391.3:c.1143C>T | NP_000382.3:p.Ser381= | |
| NM_000391.4:c.1143C>T MANE Select | NP_000382.3:p.Ser381= |