Linked Data
ClinVar Variation Id:
45281
ClinVar RCV Id:
RCV000038437
dbSNP Id:
rs2229066
ExAC:
7:55259450 C / T
gnomAD v2:
7-55259450-C-T
gnomAD v3:
7-55191757-C-T
gnomAD v4:
7-55191757-C-T
COSMIC:
COSM85893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191757C>T , CM000669.2:g.55191757C>T | GRCh38 |
| NC_000007.13:g.55259450C>T , CM000669.1:g.55259450C>T | GRCh37 |
| NC_000007.12:g.55226944C>T | NCBI36 |
| NG_007726.3:g.177726C>T , LRG_304:g.177726C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2349C>T | ENSP00000413354.2:p.Arg783= | |
| ENST00000700145.1:c.857C>T | ||
| ENST00000275493.7:c.2508C>T MANE Select | ENSP00000275493.2:p.Arg836= | |
| ENST00000275493.6:c.2508C>T | ENSP00000275493.2:p.Arg836= | |
| ENST00000442591.5:c.*28+18829C>T | ENSP00000410031.1:n.*28+18829C>T | |
| ENST00000454757.6:c.2373C>T | ENSP00000395243.3:p.Arg791= | |
| ENST00000455089.5:c.2373C>T | ENSP00000415559.1:p.Arg791= | |
| NM_005228.3:c.2508C>T , LRG_304t1:c.2508C>T | NP_005219.2:p.Arg836= | |
| NM_001346897.1:c.2373C>T | NP_001333826.1:p.Arg791= | |
| NM_001346898.1:c.2508C>T | NP_001333827.1:p.Arg836= | |
| NM_001346899.1:c.2373C>T | NP_001333828.1:p.Arg791= | |
| NM_001346900.1:c.2349C>T | NP_001333829.1:p.Arg783= | |
| NM_001346941.1:c.1707C>T | NP_001333870.1:p.Arg569= | |
| NM_005228.4:c.2508C>T | NP_005219.2:p.Arg836= | |
| NM_005228.5:c.2508C>T MANE Select | NP_005219.2:p.Arg836= | |
| NM_001346897.2:c.2373C>T | NP_001333826.1:p.Arg791= | |
| NM_001346898.2:c.2508C>T | NP_001333827.1:p.Arg836= | |
| NM_001346900.2:c.2349C>T | NP_001333829.1:p.Arg783= | |
| NM_001346941.2:c.1707C>T | NP_001333870.1:p.Arg569= | |
| NM_001346899.2:c.2373C>T | NP_001333828.1:p.Arg791= |