Linked Data
ClinVar Variation Id:
437929
dbSNP Id:
rs369091875
ExAC:
11:6654716 C / G
gnomAD v2:
11-6654716-C-G
gnomAD v3:
11-6633485-C-G
gnomAD v4:
11-6633485-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6633485C>G , CM000673.2:g.6633485C>G | GRCh38 |
| NC_000011.9:g.6654716C>G , CM000673.1:g.6654716C>G | GRCh37 |
| NC_000011.8:g.6611292C>G | NCBI36 |
| NG_033858.1:g.27365G>C | |
| NG_033858.2:g.27365G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299441.5:c.2382G>C MANE Select | ENSP00000299441.3:p.Gln794His | |
| ENST00000680123.1:n.266G>C | ||
| ENST00000299441.4:c.2382G>C | ENSP00000299441.3:p.Gln794His | |
| NM_003737.3:c.2382G>C | NP_003728.1:p.Gln794His | |
| NM_003737.4:c.2382G>C MANE Select | NP_003728.1:p.Gln794His |