Linked Data
dbSNP Id:
rs1180461011
gnomAD v2:
2-202588099-T-C
gnomAD v3:
2-201723376-T-C
gnomAD v4:
2-201723376-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201723376T>C , CM000664.2:g.201723376T>C | GRCh38 |
| NC_000002.11:g.202588099T>C , CM000664.1:g.202588099T>C | GRCh37 |
| NC_000002.10:g.202296344T>C | NCBI36 |
| NG_008775.1:g.62797A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.3578A>G MANE Select | ENSP00000264276.6:p.Gln1193Arg | |
| ENST00000439495.6:c.1256A>G | ENSP00000403832.2:p.Gln419Arg | |
| ENST00000482891.6:n.4346A>G | ||
| ENST00000494017.6:n.1310A>G | ||
| ENST00000679409.1:c.1256A>G | ENSP00000506531.1:p.Gln419Arg | |
| ENST00000679416.1:n.5082A>G | ||
| ENST00000679435.1:c.3578A>G | ENSP00000505218.1:p.Gln1193Arg | |
| ENST00000679516.1:c.3578A>G | ENSP00000505187.1:p.Gln1193Arg | |
| ENST00000679618.1:c.*666A>G | ENSP00000506274.1:n.*666A>G | |
| ENST00000679630.1:n.5427A>G | ||
| ENST00000679686.1:n.3692A>G | ||
| ENST00000679701.1:n.6570A>G | ||
| ENST00000679916.1:c.3578A>G | ENSP00000506172.1:p.Gln1193Arg | |
| ENST00000680000.1:c.3578A>G | ENSP00000506173.1:p.Gln1193Arg | |
| ENST00000680135.1:c.*1542A>G | ENSP00000506211.1:n.*1542A>G | |
| ENST00000680149.1:c.3578A>G | ENSP00000506497.1:p.Gln1193Arg | |
| ENST00000680163.1:c.3578A>G | ENSP00000505092.1:p.Gln1193Arg | |
| ENST00000680174.1:n.4269A>G | ||
| ENST00000680236.1:c.*639A>G | ENSP00000506212.1:n.*639A>G | |
| ENST00000680497.1:c.3680A>G | ENSP00000505954.1:p.Gln1227Arg | |
| ENST00000680508.1:c.3578A>G | ENSP00000505749.1:p.Gln1193Arg | |
| ENST00000680569.1:c.*1289A>G | ENSP00000505522.1:n.*1289A>G | |
| ENST00000680630.1:n.4010A>G | ||
| ENST00000680634.1:n.21-2887A>G | ||
| ENST00000680722.1:n.1378A>G | ||
| ENST00000680723.1:n.4361A>G | ||
| ENST00000680726.1:c.3578A>G | ENSP00000505505.1:p.Gln1193Arg | |
| ENST00000680737.1:n.3849A>G | ||
| ENST00000680759.1:c.3578A>G | ENSP00000505848.1:p.Gln1193Arg | |
| ENST00000680814.1:c.3578A>G | ENSP00000505710.1:p.Gln1193Arg | |
| ENST00000680828.1:c.*1150A>G | ENSP00000505249.1:n.*1150A>G | |
| ENST00000680861.1:c.3578A>G | ENSP00000505043.1:p.Gln1193Arg | |
| ENST00000680927.1:c.3578A>G | ENSP00000505473.1:p.Gln1193Arg | |
| ENST00000680939.1:n.3920A>G | ||
| ENST00000681152.1:c.3578A>G | ENSP00000505388.1:p.Gln1193Arg | |
| ENST00000681250.1:c.*295A>G | ENSP00000505684.1:n.*295A>G | |
| ENST00000681256.1:c.*1596A>G | ENSP00000505446.1:n.*1596A>G | |
| ENST00000681279.1:n.4346A>G | ||
| ENST00000681303.1:c.3578A>G | ENSP00000505576.1:p.Gln1193Arg | |
| ENST00000681307.1:n.4691A>G | ||
| ENST00000681461.1:n.4346A>G | ||
| ENST00000681495.1:c.1118A>G | ENSP00000506085.1:p.Gln373Arg | |
| ENST00000681558.1:c.1256A>G | ENSP00000505568.1:p.Gln419Arg | |
| ENST00000681619.1:c.3578A>G | ENSP00000505071.1:p.Gln1193Arg | |
| ENST00000681716.1:c.*1289A>G | ENSP00000505078.1:n.*1289A>G | |
| ENST00000681758.1:n.3920A>G | ||
| ENST00000681768.1:c.*1242A>G | ENSP00000506311.1:n.*1242A>G | |
| ENST00000681808.1:c.3578A>G | ENSP00000505219.1:p.Gln1193Arg | |
| ENST00000264276.10:c.3578A>G | ENSP00000264276.6:p.Gln1193Arg | |
| ENST00000439495.5:c.1539A>G | ||
| ENST00000482891.5:n.3718A>G | ||
| ENST00000489440.5:n.399A>G | ||
| NM_020919.3:c.3578A>G | NP_065970.2:p.Gln1193Arg | |
| XM_005246709.2:c.3578A>G | XP_005246766.1:p.Gln1193Arg | |
| XM_006712654.1:c.3578A>G | XP_006712717.1:p.Gln1193Arg | |
| XM_006712655.2:c.1514A>G | XP_006712718.1:p.Gln505Arg | |
| XM_011511530.1:c.3239A>G | XP_011509832.1:p.Gln1080Arg | |
| XM_011511531.1:c.3578A>G | XP_011509833.1:p.Gln1193Arg | |
| XR_922974.1:n.3713A>G | ||
| XM_006712654.3:c.3578A>G | XP_006712717.1:p.Gln1193Arg | |
| XM_006712655.3:c.1514A>G | XP_006712718.1:p.Gln505Arg | |
| XM_017004569.2:c.3578A>G | XP_016860058.1:p.Gln1193Arg | |
| XM_017004570.2:c.3578A>G | XP_016860059.1:p.Gln1193Arg | |
| XM_017004572.2:c.1196A>G | XP_016860061.1:p.Gln399Arg | |
| XM_024453024.1:c.3239A>G | XP_024308792.1:p.Gln1080Arg | |
| XM_024453025.1:c.1514A>G | XP_024308793.1:p.Gln505Arg | |
| XR_001738864.2:n.3713A>G | ||
| XR_001738865.2:n.3713A>G | ||
| XR_001738866.2:n.3713A>G | ||
| XR_001738867.2:n.3713A>G | ||
| XR_002959320.1:n.2769A>G | ||
| NM_020919.4:c.3578A>G MANE Select | NP_065970.2:p.Gln1193Arg |