Linked Data
ClinVar Variation Id:
1742437
ClinVar RCV Id:
RCV002335235
MyVariant Identifiers:
chr11:g.61213510A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446038A>G , CM000673.2:g.61446038A>G | GRCh38 |
| NC_000011.9:g.61213510A>G , CM000673.1:g.61213510A>G | GRCh37 |
| NC_000011.8:g.60970086A>G | NCBI36 |
| NG_023393.1:g.20914A>G , LRG_519:g.20914A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.468A>G MANE Select | ENSP00000301761.3:p.Pro156= | |
| ENST00000301761.6:c.468A>G | ENSP00000301761.2:p.Pro156= | |
| ENST00000536670.5:n.396+7925A>G | ||
| ENST00000537782.5:c.*114A>G | ENSP00000469951.1:n.*114A>G | |
| ENST00000538594.5:c.370+7925A>G | ENSP00000440939.1:n.370+7925A>G | |
| ENST00000541135.5:c.377+7918A>G | ENSP00000443130.1:n.377+7918A>G | |
| ENST00000542074.1:c.*47A>G | ENSP00000469670.1:n.*47A>G | |
| ENST00000542794.5:c.*470A>G | ENSP00000439983.1:n.*470A>G | |
| ENST00000543044.2:c.432A>G | ENSP00000440219.1:p.Pro144= | |
| ENST00000543265.1:c.*91A>G | ENSP00000443660.1:n.*91A>G | |
| ENST00000544025.5:n.465+7925A>G | ||
| ENST00000544801.5:c.370+7925A>G | ENSP00000442581.1:n.370+7925A>G | |
| ENST00000544880.1:n.374+7925A>G | ||
| NM_017841.2:c.468A>G , LRG_519t1:c.468A>G | NP_060311.1:p.Pro156= | |
| NM_017841.4:c.468A>G MANE Select | NP_060311.1:p.Pro156= |