Linked Data
ClinVar Variation Id:
2829101
ClinVar RCV Id:
RCV003628172
COSMIC:
COSM4942550
MyVariant Identifiers:
chr18:g.29172906T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592943T>A , CM000680.2:g.31592943T>A | GRCh38 |
| NC_000018.9:g.29172906T>A , CM000680.1:g.29172906T>A | GRCh37 |
| NC_000018.8:g.27426904T>A | NCBI36 |
| NG_009490.1:g.6177T>A , LRG_416:g.6177T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.117T>A MANE Select | ENSP00000237014.4:p.Ala39= | |
| ENST00000610404.5:c.21T>A | ENSP00000477599.2:p.Ala7= | |
| ENST00000649620.1:c.117T>A | ENSP00000497927.1:p.Ala39= | |
| ENST00000237014.7:c.117T>A | ENSP00000237014.3:p.Ala39= | |
| ENST00000432547.7:n.143T>A | ||
| ENST00000541025.2:n.143T>A | ||
| ENST00000610404.4:c.117T>A | ENSP00000477599.1:p.Ala39= | |
| ENST00000613781.1:c.117T>A | ENSP00000479174.1:p.Ala39= | |
| NM_000371.3:c.117T>A , LRG_416t1:c.117T>A | NP_000362.1:p.Ala39= | |
| NM_000371.4:c.117T>A MANE Select | NP_000362.1:p.Ala39= |