Linked Data
ClinVar Variation Id:
2773467
ClinVar RCV Id:
RCV003592292
MyVariant Identifiers:
chr11:g.2593300C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572070C>T , CM000673.2:g.2572070C>T | GRCh38 |
| NC_000011.9:g.2593300C>T , CM000673.1:g.2593300C>T | GRCh37 |
| NC_000011.8:g.2549876C>T | NCBI36 |
| NG_008935.1:g.132080C>T , LRG_287:g.132080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.480C>T | ENSP00000434560.2:p.Thr160= | |
| ENST00000646564.2:c.478-11365C>T | ENSP00000495806.2:n.478-11365C>T | |
| ENST00000155840.12:c.741C>T MANE Select | ENSP00000155840.2:p.Thr247= | |
| ENST00000335475.6:c.360C>T | ENSP00000334497.5:p.Thr120= | |
| ENST00000646564.1:c.124-11365C>T | ENSP00000495806.1:n.124-11365C>T | |
| ENST00000155840.9:c.741C>T | ENSP00000155840.2:p.Thr247= | |
| ENST00000335475.5:c.360C>T | ENSP00000334497.5:p.Thr120= | |
| ENST00000496887.6:c.480C>T | ENSP00000434560.1:p.Thr160= | |
| NM_000218.2:c.741C>T , LRG_287t1:c.741C>T | NP_000209.2:p.Thr247= | |
| NM_181798.1:c.360C>T , LRG_287t2:c.360C>T | NP_861463.1:p.Thr120= | |
| NM_000218.3:c.741C>T MANE Select | NP_000209.2:p.Thr247= |