Linked Data
ClinVar Variation Id:
2033847
ClinVar RCV Id:
RCV002872683
MyVariant Identifiers:
chr11:g.65635335A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65867864A>G , CM000673.2:g.65867864A>G | GRCh38 |
| NC_000011.9:g.65635335A>G , CM000673.1:g.65635335A>G | GRCh37 |
| NC_000011.8:g.65391911A>G | NCBI36 |
| NG_012304.2:g.10071T>C | |
| NG_053116.1:g.12803A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.1167T>C MANE Select | ENSP00000309953.6:p.Ile389= | |
| ENST00000307998.10:c.1167T>C | ENSP00000309953.6:p.Ile389= | |
| ENST00000524408.1:c.43T>C | ||
| ENST00000525392.1:n.328T>C | ||
| ENST00000526628.5:n.1733T>C | ||
| ENST00000526911.1:c.144T>C | ENSP00000436536.1:p.Ile48= | |
| ENST00000528176.5:c.1167T>C | ENSP00000434151.1:p.Ile389= | |
| ENST00000528409.1:n.400T>C | ||
| ENST00000530806.5:c.126T>C | ENSP00000436526.1:p.Ile42= | |
| ENST00000531645.5:c.315T>C | ENSP00000436521.1:p.Ile105= | |
| ENST00000531972.5:c.1167T>C | ENSP00000435295.1:p.Ile389= | |
| NM_016938.4:c.1167T>C | NP_058634.4:p.Ile389= | |
| NR_037718.1:n.1426T>C | ||
| NM_016938.5:c.1167T>C MANE Select | NP_058634.4:p.Ile389= | |
| NR_037718.2:n.1292T>C |