Linked Data
ClinVar Variation Id:
1376752
ClinVar RCV Id:
RCV001889724
dbSNP Id:
rs760456822
ExAC:
10:64573682 T / C
gnomAD v2:
10-64573682-T-C
gnomAD v3:
10-62813922-T-C
gnomAD v4:
10-62813922-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62813922T>C , CM000672.2:g.62813922T>C | GRCh38 |
| NC_000010.10:g.64573682T>C , CM000672.1:g.64573682T>C | GRCh37 |
| NC_000010.9:g.64243688T>C | NCBI36 |
| NG_008936.2:g.110979A>G , LRG_239:g.110979A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411732.4:c.566A>G | ENSP00000387634.1:p.His189Arg | |
| ENST00000439032.6:c.1256A>G | ENSP00000509775.1:n.1256A>G | |
| ENST00000637191.2:c.716A>G | ENSP00000490154.2:p.His239Arg | |
| ENST00000690143.1:c.*648A>G | ENSP00000510306.1:n.*648A>G | |
| ENST00000691610.1:c.755A>G | ENSP00000509830.1:p.His252Arg | |
| ENST00000242480.4:c.716A>G MANE Select | ENSP00000242480.3:p.His239Arg | |
| ENST00000411732.3:c.566A>G | ENSP00000387634.1:p.His189Arg | |
| ENST00000639815.1:n.109-960A>G | ||
| ENST00000242480.3:c.716A>G | ENSP00000242480.3:p.His239Arg | |
| ENST00000411732.2:c.566A>G | ENSP00000387634.1:p.His189Arg | |
| ENST00000439032.4:c.716A>G | ENSP00000402040.1:p.His239Arg | |
| NM_000399.3:c.716A>G , LRG_239t1:c.716A>G | NP_000390.2:p.His239Arg | |
| NM_001136177.1:c.716A>G | NP_001129649.1:p.His239Arg | |
| NM_001136178.1:c.716A>G | NP_001129650.1:p.His239Arg | |
| NM_001136179.1:c.566A>G | NP_001129651.1:p.His189Arg | |
| XM_011539427.1:c.755A>G | XP_011537729.1:p.His252Arg | |
| XM_011539428.1:c.566A>G | XP_011537730.1:p.His189Arg | |
| XM_011539429.1:c.566A>G | XP_011537731.1:p.His189Arg | |
| NM_000399.4:c.716A>G | NP_000390.2:p.His239Arg | |
| NM_001136177.2:c.716A>G | NP_001129649.1:p.His239Arg | |
| NM_001136179.2:c.566A>G | NP_001129651.1:p.His189Arg | |
| NM_001321037.1:c.566A>G | NP_001307966.1:p.His189Arg | |
| NM_000399.5:c.716A>G MANE Select | NP_000390.2:p.His239Arg | |
| NM_001136177.3:c.716A>G | NP_001129649.1:p.His239Arg | |
| NM_001136179.3:c.566A>G | NP_001129651.1:p.His189Arg | |
| NM_001321037.2:c.566A>G | NP_001307966.1:p.His189Arg | |
| NM_001136178.2:c.716A>G | NP_001129650.1:p.His239Arg |