Linked Data
ClinVar Variation Id:
1438
dbSNP Id:
rs121918231
ExAC:
4:84194751 C / T
gnomAD v2:
4-84194751-C-T
gnomAD v3:
4-83273598-C-T
gnomAD v4:
4-83273598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.83273598C>T , CM000666.2:g.83273598C>T | GRCh38 |
| NC_000004.11:g.84194751C>T , CM000666.1:g.84194751C>T | GRCh37 |
| NC_000004.10:g.84413775C>T | NCBI36 |
| NG_015825.1:g.16317G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311469.9:c.590G>A | ENSP00000310873.4:p.Arg197His | |
| ENST00000647002.2:c.440G>A MANE Select | ENSP00000495761.2:p.Arg147His | |
| ENST00000311461.7:c.440G>A | ENSP00000311835.7:p.Arg147His | |
| ENST00000311469.8:c.590G>A | ENSP00000310873.4:p.Arg197His | |
| ENST00000503391.5:c.440G>A | ENSP00000426242.1:p.Arg147His | |
| ENST00000503915.5:c.131G>A | ENSP00000427146.1:p.Arg44His | |
| ENST00000514935.1:n.352G>A | ||
| NM_015697.7:c.590G>A | NP_056512.5:p.Arg197His | |
| XM_011531855.1:c.590G>A | XP_011530157.1:p.Arg197His | |
| XM_011531856.1:c.590G>A | XP_011530158.1:p.Arg197His | |
| XM_011531857.1:c.590G>A | XP_011530159.1:p.Arg197His | |
| XM_011531858.1:c.590G>A | XP_011530160.1:p.Arg197His | |
| XM_011531859.1:c.590G>A | XP_011530161.1:p.Arg197His | |
| XM_011531860.1:c.590G>A | XP_011530162.1:p.Arg197His | |
| XM_011531861.1:c.590G>A | XP_011530163.1:p.Arg197His | |
| XM_011531862.1:c.590G>A | XP_011530164.1:p.Arg197His | |
| XM_011531863.1:c.590G>A | XP_011530165.1:p.Arg197His | |
| XM_011531864.1:c.590G>A | XP_011530166.1:p.Arg197His | |
| XM_011531865.1:c.590G>A | XP_011530167.1:p.Arg197His | |
| XM_011531866.1:c.590G>A | XP_011530168.1:p.Arg197His | |
| XM_011531867.1:c.236G>A | XP_011530169.1:p.Arg79His | |
| XR_427543.2:n.749G>A | ||
| XR_938721.1:n.765G>A | ||
| NM_001358921.1:c.440G>A | NP_001345850.1:p.Arg147His | |
| NM_015697.8:c.590G>A | NP_056512.5:p.Arg197His | |
| XM_011531855.3:c.440G>A | XP_011530157.2:p.Arg147His | |
| XM_011531857.3:c.440G>A | XP_011530159.2:p.Arg147His | |
| XM_011531859.3:c.440G>A | XP_011530161.2:p.Arg147His | |
| XM_011531860.3:c.440G>A | XP_011530162.2:p.Arg147His | |
| XM_011531862.3:c.440G>A | XP_011530164.2:p.Arg147His | |
| XM_011531863.3:c.440G>A | XP_011530165.2:p.Arg147His | |
| XM_011531866.3:c.440G>A | XP_011530168.2:p.Arg147His | |
| XM_011531867.3:c.236G>A | XP_011530169.1:p.Arg79His | |
| XM_017008031.2:c.236G>A | XP_016863520.1:p.Arg79His | |
| XR_001741203.2:n.471G>A | ||
| XR_001741204.2:n.471G>A | ||
| XR_427543.4:n.471G>A | ||
| XR_938721.3:n.471G>A | ||
| NM_001358921.2:c.440G>A MANE Select | NP_001345850.1:p.Arg147His | |
| NM_015697.9:c.590G>A | NP_056512.5:p.Arg197His |