Linked Data
dbSNP Id:
rs758761710
ExAC:
12:132425870 A / G
gnomAD v2:
12-132425870-A-G
gnomAD v4:
12-131941325-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941325A>G , CM000674.2:g.131941325A>G | GRCh38 |
| NC_000012.11:g.132425870A>G , CM000674.1:g.132425870A>G | GRCh37 |
| NC_000012.10:g.130991823A>G | NCBI36 |
| NG_013039.1:g.17126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.578A>G MANE Select | ENSP00000365837.3:p.Lys193Arg | |
| ENST00000322060.9:c.494A>G | ENSP00000324726.5:p.Lys165Arg | |
| ENST00000376649.7:c.578A>G | ENSP00000365837.3:p.Lys193Arg | |
| ENST00000443358.6:c.494A>G | ENSP00000392451.2:p.Lys165Arg | |
| ENST00000535067.5:c.358-2214A>G | ENSP00000443969.1:n.358-2214A>G | |
| ENST00000537484.1:c.503A>G | ENSP00000440179.1:p.Lys168Arg | |
| ENST00000542167.2:c.419A>G | ENSP00000438948.1:p.Lys140Arg | |
| ENST00000543754.1:n.399A>G | ||
| NM_001002019.2:c.494A>G | NP_001002019.1:p.Lys165Arg | |
| NM_001002020.2:c.494A>G | NP_001002020.1:p.Lys165Arg | |
| NM_025215.5:c.578A>G | NP_079491.2:p.Lys193Arg | |
| XM_011538768.1:c.179A>G | XP_011537070.1:p.Lys60Arg | |
| XM_011538768.3:c.179A>G | XP_011537070.1:p.Lys60Arg | |
| XR_001748872.1:n.1033A>G | ||
| NM_001002019.3:c.494A>G | NP_001002019.1:p.Lys165Arg | |
| NM_001002020.3:c.494A>G | NP_001002020.1:p.Lys165Arg | |
| NM_025215.6:c.578A>G MANE Select | NP_079491.2:p.Lys193Arg |