Linked Data
ClinVar Variation Id:
17282
ClinVar RCV Id:
RCV000018823
dbSNP Id:
rs267606742
COSMIC:
COSM3883483
PubMed:
PMID:19208385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94427628G>A , CM000669.2:g.94427628G>A | GRCh38 |
| NC_000007.13:g.94056940G>A , CM000669.1:g.94056940G>A | GRCh37 |
| NC_000007.12:g.93894876G>A | NCBI36 |
| NG_007405.1:g.38068G>A , LRG_2:g.38068G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.3269G>A MANE Select | ENSP00000297268.6:p.Gly1090Asp | |
| ENST00000297268.10:c.3269G>A | ENSP00000297268.6:p.Gly1090Asp | |
| ENST00000464916.1:n.317G>A | ||
| ENST00000481570.5:n.4050G>A | ||
| ENST00000620463.1:c.3263G>A | ENSP00000477719.1:p.Gly1088Asp | |
| NM_000089.3:c.3269G>A , LRG_2t1:c.3269G>A | NP_000080.2:p.Gly1090Asp | |
| NM_000089.4:c.3269G>A MANE Select | NP_000080.2:p.Gly1090Asp |