Linked Data
ClinVar Variation Id:
1622622
ClinVar RCV Id:
RCV002108409
dbSNP Id:
rs2134902012
MyVariant Identifiers:
chr11:g.61213460C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61445988C>T , CM000673.2:g.61445988C>T | GRCh38 |
| NC_000011.9:g.61213460C>T , CM000673.1:g.61213460C>T | GRCh37 |
| NC_000011.8:g.60970036C>T | NCBI36 |
| NG_023393.1:g.20864C>T , LRG_519:g.20864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.418C>T MANE Select | ENSP00000301761.3:p.Leu140= | |
| ENST00000301761.6:c.418C>T | ENSP00000301761.2:p.Leu140= | |
| ENST00000359614.9:c.*126C>T | ENSP00000352630.5:n.*126C>T | |
| ENST00000536670.5:n.396+7875C>T | ||
| ENST00000537782.5:c.*64C>T | ENSP00000469951.1:n.*64C>T | |
| ENST00000538594.5:c.370+7875C>T | ENSP00000440939.1:n.370+7875C>T | |
| ENST00000541135.5:c.377+7868C>T | ENSP00000443130.1:n.377+7868C>T | |
| ENST00000542074.1:c.84C>T | ENSP00000469670.1:p.Cys28= | |
| ENST00000542794.5:c.*420C>T | ENSP00000439983.1:n.*420C>T | |
| ENST00000543044.2:c.382C>T | ENSP00000440219.1:p.Leu128= | |
| ENST00000543265.1:c.*41C>T | ENSP00000443660.1:n.*41C>T | |
| ENST00000544025.5:n.465+7875C>T | ||
| ENST00000544801.5:c.370+7875C>T | ENSP00000442581.1:n.370+7875C>T | |
| ENST00000544880.1:n.374+7875C>T | ||
| NM_017841.2:c.418C>T , LRG_519t1:c.418C>T | NP_060311.1:p.Leu140= | |
| NM_017841.4:c.418C>T MANE Select | NP_060311.1:p.Leu140= |