Linked Data
ClinVar Variation Id:
302430
dbSNP Id:
rs781853968
ExAC:
11:111779450 C / G
gnomAD v2:
11-111779450-C-G
gnomAD v4:
11-111908726-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111908726C>G , CM000673.2:g.111908726C>G | GRCh38 |
| NC_000011.9:g.111779450C>G , CM000673.1:g.111779450C>G | GRCh37 |
| NC_000011.8:g.111284660C>G | NCBI36 |
| NG_009824.2:g.19997G>C | |
| NG_033080.1:g.991C>G | |
| NG_009824.3:g.19997G>C | |
| NG_033080.2:g.991C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526167.5:c.*45G>C | ENSP00000434793.1:n.*45G>C | |
| ENST00000526180.6:c.*38G>C | ENSP00000436051.1:n.*38G>C | |
| ENST00000527899.6:c.*38G>C | ENSP00000436089.2:n.*38G>C | |
| ENST00000528961.6:c.*38G>C | ENSP00000435960.1:n.*38G>C | |
| ENST00000533280.6:c.*38G>C | ENSP00000435046.1:n.*38G>C | |
| ENST00000533475.6:c.*38G>C | ENSP00000433560.1:n.*38G>C | |
| ENST00000533879.2:c.*38G>C | ENSP00000435931.2:n.*38G>C | |
| ENST00000533971.2:c.*1457G>C | ENSP00000434269.1:n.*1457G>C | |
| ENST00000616970.5:c.*38G>C | ENSP00000483554.1:n.*38G>C | |
| ENST00000650687.2:c.*38G>C MANE Select | ENSP00000499082.1:n.*38G>C | |
| ENST00000651164.1:c.*38G>C | ENSP00000498735.1:n.*38G>C | |
| ENST00000651650.1:c.*38G>C | ENSP00000498749.1:n.*38G>C | |
| ENST00000652223.1:n.3311G>C | ||
| ENST00000652606.1:n.1884G>C | ||
| ENST00000227251.7:c.*38G>C | ENSP00000227251.3:n.*38G>C | |
| ENST00000524660.1:c.357G>C | ||
| ENST00000525823.1:c.*38G>C | ENSP00000435411.1:n.*38G>C | |
| ENST00000526180.5:c.*38G>C | ENSP00000436051.1:n.*38G>C | |
| ENST00000527950.5:c.*38G>C | ENSP00000437149.1:n.*38G>C | |
| ENST00000531198.5:c.*38G>C | ENSP00000434247.1:n.*38G>C | |
| ENST00000533280.5:c.*38G>C | ENSP00000435046.1:n.*38G>C | |
| ENST00000533475.5:c.*38G>C | ENSP00000433560.1:n.*38G>C | |
| ENST00000616970.4:c.*38G>C | ENSP00000483554.1:n.*38G>C | |
| NM_001289807.1:c.*38G>C | NP_001276736.1:n.*38G>C | |
| NM_001289808.1:c.*38G>C | NP_001276737.1:n.*38G>C | |
| NM_001885.2:c.*38G>C | NP_001876.1:n.*38G>C | |
| XM_011542608.1:c.*38G>C | XP_011540910.1:n.*38G>C | |
| XM_011542609.1:c.*38G>C | XP_011540911.1:n.*38G>C | |
| NM_001330379.1:c.*38G>C | NP_001317308.1:n.*38G>C | |
| NM_001289808.2:c.*38G>C MANE Select | NP_001276737.1:n.*38G>C | |
| NM_001368245.1:c.*38G>C | NP_001355174.1:n.*38G>C | |
| NM_001368246.1:c.*38G>C | NP_001355175.1:n.*38G>C | |
| NM_001885.3:c.*38G>C | NP_001876.1:n.*38G>C |