Linked Data
ClinVar Variation Id:
423957
ClinVar RCV Id:
RCV000485037
dbSNP Id:
rs1064796718
COSMIC:
COSM4069151
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124275A>G , CM000679.2:g.72124275A>G | GRCh38 |
| NC_000017.10:g.70120416A>G , CM000679.1:g.70120416A>G | GRCh37 |
| NC_000017.9:g.67632011A>G | NCBI36 |
| NG_012490.1:g.8256A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1418A>G MANE Select | ENSP00000245479.2:p.Gln473Arg | |
| ENST00000245479.2:c.1418A>G | ENSP00000245479.2:p.Gln473Arg | |
| NM_000346.3:c.1418A>G | NP_000337.1:p.Gln473Arg | |
| NM_000346.4:c.1418A>G MANE Select | NP_000337.1:p.Gln473Arg |