Linked Data
ClinVar Variation Id:
5020
dbSNP Id:
rs267606653
gnomAD v4:
11-44267607-G-A
COSMIC:
COSM926983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44267607G>A , CM000673.2:g.44267607G>A | GRCh38 |
| NC_000011.9:g.44289157G>A , CM000673.1:g.44289157G>A | GRCh37 |
| NC_000011.8:g.44245733G>A | NCBI36 |
| NG_015809.1:g.47560C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652299.1:c.793C>T MANE Select | ENSP00000498217.1:p.Arg265Ter | |
| ENST00000329255.3:c.793C>T | ENSP00000332744.3:p.Arg265Ter | |
| NM_021926.3:c.793C>T | NP_068745.2:p.Arg265Ter | |
| XM_011520265.1:c.271C>T | XP_011518567.1:p.Arg91Ter | |
| XM_011520266.1:c.271C>T | XP_011518568.1:p.Arg91Ter | |
| NM_021926.4:c.793C>T MANE Select | NP_068745.2:p.Arg265Ter |