Linked Data
ClinVar Variation Id:
11300
dbSNP Id:
rs128624219
COSMIC:
COSM4440650
PubMed:
PMID:7849723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736232G>A , CM000685.2:g.153736232G>A | GRCh38 |
| NC_000023.10:g.153001686G>A , CM000685.1:g.153001686G>A | GRCh37 |
| NC_000023.9:g.152654880G>A | NCBI36 |
| NG_009022.2:g.16365G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218104.6:c.1202G>A MANE Select | ENSP00000218104.3:p.Arg401Gln | |
| ENST00000218104.5:c.1202G>A | ENSP00000218104.3:p.Arg401Gln | |
| ENST00000443684.2:n.205G>A | ||
| NM_000033.3:c.1202G>A | NP_000024.2:p.Arg401Gln | |
| XR_938507.1:n.1618G>A | ||
| XR_938507.2:n.1618G>A | ||
| NM_000033.4:c.1202G>A MANE Select | NP_000024.2:p.Arg401Gln |