Linked Data
ClinVar Variation Id:
128970
dbSNP Id:
rs1570624
ExAC:
6:52319050 G / A
gnomAD v2:
6-52319050-G-A
gnomAD v3:
6-52454252-G-A
gnomAD v4:
6-52454252-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52454252G>A , CM000668.2:g.52454252G>A | GRCh38 |
| NC_000006.11:g.52319050G>A , CM000668.1:g.52319050G>A | GRCh37 |
| NC_000006.10:g.52427009G>A | NCBI36 |
| NG_016760.1:g.39057G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.881G>A MANE Select | ENSP00000360107.4:p.Arg294His | |
| ENST00000480623.6:c.881G>A | ENSP00000434498.2:p.Arg294His | |
| ENST00000635760.1:c.557G>A | ENSP00000489765.1:p.Arg186His | |
| ENST00000635812.1:c.*182G>A | ENSP00000490859.1:n.*182G>A | |
| ENST00000635866.1:c.*750G>A | ENSP00000489866.1:n.*750G>A | |
| ENST00000635911.1:n.2399G>A | ||
| ENST00000635984.1:c.557G>A | ENSP00000489921.1:p.Arg186His | |
| ENST00000635996.1:c.881G>A | ENSP00000490256.1:p.Arg294His | |
| ENST00000636107.1:c.881G>A | ENSP00000489680.1:p.Arg294His | |
| ENST00000636311.1:n.775G>A | ||
| ENST00000636343.1:c.547G>A | ||
| ENST00000636379.1:c.593G>A | ENSP00000490622.1:p.Arg198His | |
| ENST00000636398.1:c.581G>A | ENSP00000489654.1:n.581G>A | |
| ENST00000636489.1:c.824G>A | ENSP00000489998.1:p.Arg275His | |
| ENST00000636616.1:n.497G>A | ||
| ENST00000636702.1:c.851G>A | ENSP00000489623.1:p.Arg284His | |
| ENST00000636954.1:c.824G>A | ENSP00000489966.1:p.Arg275His | |
| ENST00000637089.1:c.881G>A | ENSP00000489854.1:p.Arg294His | |
| ENST00000637263.1:c.881G>A | ENSP00000489700.1:p.Arg294His | |
| ENST00000637340.1:n.2806G>A | ||
| ENST00000637353.1:c.881G>A | ENSP00000490441.1:p.Arg294His | |
| ENST00000637602.1:c.*582G>A | ENSP00000490074.1:n.*582G>A | |
| ENST00000637849.1:n.945G>A | ||
| ENST00000637874.1:c.47G>A | ENSP00000490348.1:p.Arg16His | |
| ENST00000637892.1:n.1085G>A | ||
| ENST00000371068.9:c.881G>A | ENSP00000360107.4:p.Arg294His | |
| ENST00000480623.5:c.*1301G>A | ENSP00000434498.1:n.*1301G>A | |
| ENST00000538167.2:c.824G>A | ENSP00000444521.1:p.Arg275His | |
| NM_001172420.1:c.824G>A | NP_001165891.1:p.Arg275His | |
| NM_018100.3:c.881G>A | NP_060570.2:p.Arg294His | |
| NR_033327.1:n.2353G>A | ||
| NM_018100.4:c.881G>A MANE Select | NP_060570.2:p.Arg294His | |
| NM_001172420.2:c.824G>A | NP_001165891.1:p.Arg275His | |
| NR_033327.2:n.2207G>A |