Linked Data
ClinVar Variation Id:
1763018
ClinVar RCV Id:
RCV002434690
MyVariant Identifiers:
chr11:g.65635994T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868523T>C , CM000673.2:g.65868523T>C | GRCh38 |
| NC_000011.9:g.65635994T>C , CM000673.1:g.65635994T>C | GRCh37 |
| NC_000011.8:g.65392570T>C | NCBI36 |
| NG_012304.2:g.9412A>G | |
| NG_053116.1:g.13462T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.834A>G MANE Select | ENSP00000309953.6:p.Thr278= | |
| ENST00000307998.10:c.834A>G | ENSP00000309953.6:p.Thr278= | |
| ENST00000526628.5:n.1400A>G | ||
| ENST00000527969.1:n.1519A>G | ||
| ENST00000528176.5:c.834A>G | ENSP00000434151.1:p.Thr278= | |
| ENST00000530806.5:c.-165A>G | ENSP00000436526.1:n.-165A>G | |
| ENST00000531005.5:n.1828A>G | ||
| ENST00000531972.5:c.834A>G | ENSP00000435295.1:p.Thr278= | |
| ENST00000532084.5:n.260A>G | ||
| NM_016938.4:c.834A>G | NP_058634.4:p.Thr278= | |
| NR_037718.1:n.1093A>G | ||
| NM_016938.5:c.834A>G MANE Select | NP_058634.4:p.Thr278= | |
| NR_037718.2:n.959A>G |