Linked Data
ClinVar Variation Id:
963450
ClinVar RCV Id:
RCV001237478
dbSNP Id:
rs146121458
ExAC:
7:55259449 G / A
gnomAD v2:
7-55259449-G-A
gnomAD v3:
7-55191756-G-A
gnomAD v4:
7-55191756-G-A
COSMIC:
COSM133566
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55191756G>A , CM000669.2:g.55191756G>A | GRCh38 |
| NC_000007.13:g.55259449G>A , CM000669.1:g.55259449G>A | GRCh37 |
| NC_000007.12:g.55226943G>A | NCBI36 |
| NG_007726.3:g.177725G>A , LRG_304:g.177725G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2348G>A | ENSP00000413354.2:p.Arg783His | |
| ENST00000700145.1:c.856G>A | ||
| ENST00000275493.7:c.2507G>A MANE Select | ENSP00000275493.2:p.Arg836His | |
| ENST00000275493.6:c.2507G>A | ENSP00000275493.2:p.Arg836His | |
| ENST00000442591.5:c.*28+18828G>A | ENSP00000410031.1:n.*28+18828G>A | |
| ENST00000454757.6:c.2372G>A | ENSP00000395243.3:p.Arg791His | |
| ENST00000455089.5:c.2372G>A | ENSP00000415559.1:p.Arg791His | |
| NM_005228.3:c.2507G>A , LRG_304t1:c.2507G>A | NP_005219.2:p.Arg836His | |
| NM_001346897.1:c.2372G>A | NP_001333826.1:p.Arg791His | |
| NM_001346898.1:c.2507G>A | NP_001333827.1:p.Arg836His | |
| NM_001346899.1:c.2372G>A | NP_001333828.1:p.Arg791His | |
| NM_001346900.1:c.2348G>A | NP_001333829.1:p.Arg783His | |
| NM_001346941.1:c.1706G>A | NP_001333870.1:p.Arg569His | |
| NM_005228.4:c.2507G>A | NP_005219.2:p.Arg836His | |
| NM_005228.5:c.2507G>A MANE Select | NP_005219.2:p.Arg836His | |
| NM_001346897.2:c.2372G>A | NP_001333826.1:p.Arg791His | |
| NM_001346898.2:c.2507G>A | NP_001333827.1:p.Arg836His | |
| NM_001346900.2:c.2348G>A | NP_001333829.1:p.Arg783His | |
| NM_001346941.2:c.1706G>A | NP_001333870.1:p.Arg569His | |
| NM_001346899.2:c.2372G>A | NP_001333828.1:p.Arg791His |