Linked Data
ClinVar Variation Id:
2625577
ClinVar RCV Id:
RCV003380336
MyVariant Identifiers:
chr11:g.61213537A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446065A>C , CM000673.2:g.61446065A>C | GRCh38 |
| NC_000011.9:g.61213537A>C , CM000673.1:g.61213537A>C | GRCh37 |
| NC_000011.8:g.60970113A>C | NCBI36 |
| NG_023393.1:g.20941A>C , LRG_519:g.20941A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.495A>C MANE Select | ENSP00000301761.3:p.Pro165= | |
| ENST00000301761.6:c.495A>C | ENSP00000301761.2:p.Pro165= | |
| ENST00000536670.5:n.396+7952A>C | ||
| ENST00000538594.5:c.370+7952A>C | ENSP00000440939.1:n.370+7952A>C | |
| ENST00000541135.5:c.377+7945A>C | ENSP00000443130.1:n.377+7945A>C | |
| ENST00000542074.1:c.*74A>C | ENSP00000469670.1:n.*74A>C | |
| ENST00000542794.5:c.*497A>C | ENSP00000439983.1:n.*497A>C | |
| ENST00000543044.2:c.459A>C | ENSP00000440219.1:p.Pro153= | |
| ENST00000543265.1:c.*118A>C | ENSP00000443660.1:n.*118A>C | |
| ENST00000544025.5:n.465+7952A>C | ||
| ENST00000544801.5:c.370+7952A>C | ENSP00000442581.1:n.370+7952A>C | |
| ENST00000544880.1:n.374+7952A>C | ||
| NM_017841.2:c.495A>C , LRG_519t1:c.495A>C | NP_060311.1:p.Pro165= | |
| NM_017841.4:c.495A>C MANE Select | NP_060311.1:p.Pro165= |