Linked Data
ClinVar Variation Id:
1744591
ClinVar RCV Id:
RCV002351367
gnomAD v4:
11-61446068-T-C
MyVariant Identifiers:
chr11:g.61213540T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446068T>C , CM000673.2:g.61446068T>C | GRCh38 |
| NC_000011.9:g.61213540T>C , CM000673.1:g.61213540T>C | GRCh37 |
| NC_000011.8:g.60970116T>C | NCBI36 |
| NG_023393.1:g.20944T>C , LRG_519:g.20944T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.498T>C MANE Select | ENSP00000301761.3:p.Arg166= | |
| ENST00000301761.6:c.498T>C | ENSP00000301761.2:p.Arg166= | |
| ENST00000536670.5:n.396+7955T>C | ||
| ENST00000538594.5:c.370+7955T>C | ENSP00000440939.1:n.370+7955T>C | |
| ENST00000541135.5:c.377+7948T>C | ENSP00000443130.1:n.377+7948T>C | |
| ENST00000542074.1:c.*77T>C | ENSP00000469670.1:n.*77T>C | |
| ENST00000542794.5:c.*500T>C | ENSP00000439983.1:n.*500T>C | |
| ENST00000543044.2:c.462T>C | ENSP00000440219.1:p.Arg154= | |
| ENST00000543265.1:c.*121T>C | ENSP00000443660.1:n.*121T>C | |
| ENST00000544025.5:n.465+7955T>C | ||
| ENST00000544801.5:c.370+7955T>C | ENSP00000442581.1:n.370+7955T>C | |
| ENST00000544880.1:n.374+7955T>C | ||
| NM_017841.2:c.498T>C , LRG_519t1:c.498T>C | NP_060311.1:p.Arg166= | |
| NM_017841.4:c.498T>C MANE Select | NP_060311.1:p.Arg166= |