Linked Data
dbSNP Id:
rs1305407261
gnomAD v2:
19-8645835-T-C
gnomAD v3:
19-8580951-T-C
gnomAD v4:
19-8580951-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8580951T>C , CM000681.2:g.8580951T>C | GRCh38 |
| NC_000019.9:g.8645835T>C , CM000681.1:g.8645835T>C | GRCh37 |
| NC_000019.8:g.8551835T>C | NCBI36 |
| NG_011840.2:g.34752A>G | |
| NG_052844.1:g.1497A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597188.6:c.3254A>G MANE Select | ENSP00000471851.1:p.Gln1085Arg | |
| ENST00000270328.8:c.3254A>G | ENSP00000270328.4:p.Gln1085Arg | |
| ENST00000593913.5:c.*2131A>G | ENSP00000469901.1:n.*2131A>G | |
| ENST00000595838.5:c.1715A>G | ENSP00000470501.1:p.Gln572Arg | |
| ENST00000597188.5:c.3254A>G | ENSP00000471851.1:p.Gln1085Arg | |
| NM_001282352.1:c.1715A>G | NP_001269281.1:p.Gln572Arg | |
| NM_030957.3:c.3254A>G | NP_112219.3:p.Gln1085Arg | |
| XM_006722917.2:c.2297A>G | XP_006722980.1:p.Gln766Arg | |
| XM_011528331.1:c.3401A>G | XP_011526633.1:p.Gln1134Arg | |
| XM_011528332.1:c.3401A>G | XP_011526634.1:p.Gln1134Arg | |
| XM_011528333.1:c.3401A>G | XP_011526635.1:p.Gln1134Arg | |
| XM_011528334.1:c.3077A>G | XP_011526636.1:p.Gln1026Arg | |
| XM_011528335.1:c.1970A>G | XP_011526637.1:p.Gln657Arg | |
| XM_011528336.1:c.1964A>G | XP_011526638.1:p.Gln655Arg | |
| XM_006722917.3:c.2297A>G | XP_006722980.1:p.Gln766Arg | |
| XM_017027338.2:c.3254A>G | XP_016882827.1:p.Gln1085Arg | |
| XM_017027339.1:c.1823A>G | XP_016882828.1:p.Gln608Arg | |
| XM_017027340.1:c.1817A>G | XP_016882829.1:p.Gln606Arg | |
| NM_030957.4:c.3254A>G MANE Select | NP_112219.3:p.Gln1085Arg | |
| NM_001282352.2:c.1715A>G | NP_001269281.1:p.Gln572Arg |