Linked Data
ClinVar Variation Id:
309183
dbSNP Id:
rs76258625
gnomAD v2:
12-5024277-C-G
gnomAD v3:
12-4915111-C-G
gnomAD v4:
12-4915111-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4915111C>G , CM000674.2:g.4915111C>G | GRCh38 |
| NC_000012.11:g.5024277C>G , CM000674.1:g.5024277C>G | GRCh37 |
| NC_000012.10:g.4894538C>G | NCBI36 |
| NG_011815.1:g.10205C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*2245C>G MANE Select | ENSP00000371985.3:n.*2245C>G | |
| ENST00000543874.3:n.106-2675C>G | ||
| ENST00000639306.1:c.2183+1388C>G | ENSP00000492506.1:n.2183+1388C>G | |
| ENST00000639680.1:c.159+1388C>G | ||
| ENST00000382545.3:c.*2245C>G | ENSP00000371985.3:n.*2245C>G | |
| ENST00000541095.1:n.105+4639C>G | ||
| ENST00000543874.2:n.97-2675C>G | ||
| NM_000217.2:c.*2245C>G | NP_000208.2:n.*2245C>G | |
| NM_000217.3:c.*2245C>G MANE Select | NP_000208.2:n.*2245C>G |