Linked Data
ClinVar Variation Id:
2183038
ClinVar RCV Id:
RCV002592324
dbSNP Id:
rs1177628525
gnomAD v2:
11-125848220-C-T
gnomAD v3:
11-125978325-C-T
gnomAD v4:
11-125978325-C-T
COSMIC:
COSM1200615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125978325C>T , CM000673.2:g.125978325C>T | GRCh38 |
| NC_000011.9:g.125848220C>T , CM000673.1:g.125848220C>T | GRCh37 |
| NC_000011.8:g.125353430C>T | NCBI36 |
| NG_029776.1:g.89968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683597.1:n.958G>A | ||
| ENST00000683716.1:c.*1059G>A | ENSP00000506883.1:n.*1059G>A | |
| ENST00000683981.1:n.1410G>A | ||
| ENST00000684078.1:c.3335G>A | ENSP00000507318.1:p.Arg1112Gln | |
| ENST00000531738.6:c.3335G>A MANE Select | ENSP00000432901.2:p.Arg1112Gln | |
| ENST00000680589.1:n.1853G>A | ||
| ENST00000263577.11:c.3335G>A | ENSP00000263577.7:p.Arg1112Gln | |
| ENST00000392693.7:c.3335G>A | ENSP00000376458.3:p.Arg1112Gln | |
| ENST00000531738.5:c.1466G>A | ENSP00000432901.1:p.Arg489Gln | |
| NM_001243597.1:c.3335G>A | NP_001230526.1:p.Arg1112Gln | |
| NM_016952.4:c.3335G>A | NP_058648.4:p.Arg1112Gln | |
| XM_011542862.1:c.3335G>A | XP_011541164.1:p.Arg1112Gln | |
| XM_011542863.1:c.3335G>A | XP_011541165.1:p.Arg1112Gln | |
| XM_011542864.1:c.3335G>A | XP_011541166.1:p.Arg1112Gln | |
| XM_011542865.1:c.3335G>A | XP_011541167.1:p.Arg1112Gln | |
| XM_011542866.1:c.3335G>A | XP_011541168.1:p.Arg1112Gln | |
| XM_011542862.3:c.3335G>A | XP_011541164.1:p.Arg1112Gln | |
| XM_011542863.2:c.3335G>A | XP_011541165.1:p.Arg1112Gln | |
| XM_011542864.2:c.3335G>A | XP_011541166.1:p.Arg1112Gln | |
| XM_011542865.2:c.3335G>A | XP_011541167.1:p.Arg1112Gln | |
| XM_011542866.3:c.3335G>A | XP_011541168.1:p.Arg1112Gln | |
| XM_017017873.1:c.3335G>A | XP_016873362.1:p.Arg1112Gln | |
| XR_001747899.2:n.3653G>A | ||
| NM_001243597.2:c.3335G>A | NP_001230526.1:p.Arg1112Gln | |
| NM_001378964.1:c.3335G>A MANE Select | NP_001365893.1:p.Arg1112Gln | |
| NM_016952.5:c.3335G>A | NP_058648.4:p.Arg1112Gln |