Linked Data
ClinVar Variation Id:
376220
ClinVar RCV Id:
RCV000426087
dbSNP Id:
rs1057519834
COSMIC:
COSM579
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713908_114713909delinsCT , CM000663.2:g.114713908_114713909delinsCT | GRCh38 |
| NC_000001.10:g.115256529_115256530delinsCT , CM000663.1:g.115256529_115256530delinsCT | GRCh37 |
| NC_000001.9:g.115058052_115058053delinsCT | NCBI36 |
| NG_007572.1:g.7986_7987delinsAG , LRG_92:g.7986_7987delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.181_182delinsAG MANE Select | ENSP00000358548.4:p.Gln61Arg | |
| ENST00000369535.4:c.181_182delinsAG | ENSP00000358548.4:p.Gln61Arg | |
| NM_002524.4:c.181_182delinsAG | NP_002515.1:p.Gln61Arg | |
| NM_002524.5:c.181_182delinsAG MANE Select | NP_002515.1:p.Gln61Arg |