Linked Data
ClinVar Variation Id:
2567282
ClinVar RCV Id:
RCV003278427
dbSNP Id:
rs1554825519
COSMIC:
COSM6191502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87960936G>C , CM000672.2:g.87960936G>C | GRCh38 |
| NC_000010.10:g.89720693G>C , CM000672.1:g.89720693G>C | GRCh37 |
| NC_000010.9:g.89710673G>C | NCBI36 |
| NG_007466.2:g.102498G>C , LRG_311:g.102498G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.937G>C | ENSP00000514759.2:p.Gly313Arg | |
| ENST00000710265.1:c.844G>C | ENSP00000518161.1:p.Gly282Arg | |
| ENST00000472832.3:c.844G>C | ENSP00000483066.2:p.Gly282Arg | |
| ENST00000688158.2:n.1579G>C | ||
| ENST00000688922.2:c.*674G>C | ENSP00000508742.2:n.*674G>C | |
| ENST00000700021.1:c.799G>C | ENSP00000514757.1:p.Gly267Arg | |
| ENST00000700022.1:c.*183G>C | ENSP00000514758.1:n.*183G>C | |
| ENST00000700023.1:n.2002G>C | ||
| ENST00000700024.1:n.2236G>C | ||
| ENST00000700025.1:n.1613G>C | ||
| ENST00000700026.1:n.481G>C | ||
| ENST00000700029.1:c.771G>C | ||
| ENST00000706954.1:c.844G>C | ENSP00000516674.1:p.Gly282Arg | |
| ENST00000706955.1:c.*879G>C | ENSP00000516675.1:n.*879G>C | |
| ENST00000686459.1:c.*430G>C | ENSP00000508909.1:n.*430G>C | |
| ENST00000688158.1:c.*955G>C | ENSP00000509254.1:n.*955G>C | |
| ENST00000688308.1:c.844G>C | ENSP00000508752.1:p.Gly282Arg | |
| ENST00000688922.1:c.765G>C | ||
| ENST00000693560.1:c.1363G>C | ENSP00000509861.1:p.Gly455Arg | |
| ENST00000371953.8:c.844G>C MANE Select | ENSP00000361021.3:p.Gly282Arg | |
| ENST00000371953.7:c.844G>C | ENSP00000361021.3:p.Gly282Arg | |
| ENST00000472832.2:c.271G>C | ENSP00000483066.1:p.Gly91Arg | |
| NM_000314.5:c.844G>C | NP_000305.3:p.Gly282Arg | |
| NM_000314.6:c.844G>C | NP_000305.3:p.Gly282Arg | |
| NM_001304717.2:c.1363G>C | NP_001291646.2:p.Gly455Arg | |
| NM_001304718.1:c.253G>C | NP_001291647.1:p.Gly85Arg | |
| XM_006717926.2:c.799G>C | XP_006717989.1:p.Gly267Arg | |
| XM_011539981.1:c.844G>C | XP_011538283.1:p.Gly282Arg | |
| XM_011539982.1:c.748G>C | XP_011538284.1:p.Gly250Arg | |
| XR_945791.1:n.1414G>C | ||
| NM_000314.7:c.844G>C | NP_000305.3:p.Gly282Arg | |
| NM_001304717.5:c.1363G>C | NP_001291646.4:p.Gly455Arg | |
| NM_001304718.2:c.253G>C | NP_001291647.1:p.Gly85Arg | |
| NM_000314.8:c.844G>C MANE Select | NP_000305.3:p.Gly282Arg |