Linked Data
ClinVar Variation Id:
2225798
ClinVar RCV Id:
RCV004086951
dbSNP Id:
rs375378353
ExAC:
17:56650629 C / G
gnomAD v2:
17-56650629-C-G
gnomAD v3:
17-58573268-C-G
gnomAD v4:
17-58573268-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58573268C>G , CM000679.2:g.58573268C>G | GRCh38 |
| NC_000017.10:g.56650629C>G , CM000679.1:g.56650629C>G | GRCh37 |
| NC_000017.9:g.54005628C>G | NCBI36 |
| NG_047169.1:g.123812G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3424G>C MANE Select | ENSP00000268910.8:p.Glu1142Gln | |
| ENST00000240361.12:c.3562G>C | ENSP00000240361.8:p.Glu1188Gln | |
| ENST00000349033.9:c.3424G>C | ENSP00000268910.8:p.Glu1142Gln | |
| ENST00000389934.7:c.3544G>C | ENSP00000374584.3:p.Glu1182Gln | |
| ENST00000582740.1:c.*3262G>C | ENSP00000463593.1:n.*3262G>C | |
| NM_001201457.1:c.3562G>C | NP_001188386.1:p.Glu1188Gln | |
| NM_031272.4:c.3424G>C | NP_112562.3:p.Glu1142Gln | |
| NM_198393.3:c.3544G>C | NP_938207.2:p.Glu1182Gln | |
| XM_011525028.1:c.3667G>C | XP_011523330.1:p.Glu1223Gln | |
| XM_011525029.1:c.3667G>C | XP_011523331.1:p.Glu1223Gln | |
| XM_011525030.1:c.3667G>C | XP_011523332.1:p.Glu1223Gln | |
| XM_011525031.1:c.3667G>C | XP_011523333.1:p.Glu1223Gln | |
| XM_011525032.1:c.3430G>C | XP_011523334.1:p.Glu1144Gln | |
| XM_011525033.1:c.2368G>C | XP_011523335.1:p.Glu790Gln | |
| XM_011525029.3:c.3667G>C | XP_011523331.1:p.Glu1223Gln | |
| XM_017024861.1:c.2368G>C | XP_016880350.1:p.Glu790Gln | |
| NM_001201457.2:c.3562G>C | NP_001188386.1:p.Glu1188Gln | |
| NM_031272.5:c.3424G>C MANE Select | NP_112562.3:p.Glu1142Gln | |
| NM_198393.4:c.3544G>C | NP_938207.2:p.Glu1182Gln |