Linked Data
ClinVar Variation Id:
1480053
ClinVar RCV Id:
RCV001991166
dbSNP Id:
rs777425990
ExAC:
22:42462769 C / T
gnomAD v2:
22-42462769-C-T
gnomAD v3:
22-42066765-C-T
gnomAD v4:
22-42066765-C-T
COSMIC:
COSM4104537
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42066765C>T , CM000684.2:g.42066765C>T | GRCh38 |
| NC_000022.10:g.42462769C>T , CM000684.1:g.42462769C>T | GRCh37 |
| NC_000022.9:g.40792715C>T | NCBI36 |
| NG_009247.1:g.9078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.542G>A MANE Select | ENSP00000379680.3:p.Arg181His | |
| ENST00000396398.7:c.542G>A | ENSP00000379680.3:p.Arg181His | |
| ENST00000402937.1:c.542G>A | ENSP00000384603.1:p.Arg181His | |
| ENST00000403363.5:c.542G>A | ENSP00000385283.1:p.Arg181His | |
| NM_000262.2:c.542G>A | NP_000253.1:p.Arg181His | |
| XM_005261615.3:c.542G>A | XP_005261672.1:p.Arg181His | |
| XM_005261616.3:c.542G>A | XP_005261673.1:p.Arg181His | |
| NM_001362848.1:c.542G>A | NP_001349777.1:p.Arg181His | |
| NM_001362850.1:c.542G>A | NP_001349779.1:p.Arg181His | |
| NM_000262.3:c.542G>A MANE Select | NP_000253.1:p.Arg181His |