Linked Data
ClinVar Variation Id:
378835
dbSNP Id:
rs17849443
ExAC:
6:3154871 A / C
gnomAD v2:
6-3154871-A-C
gnomAD v3:
6-3154637-A-C
gnomAD v4:
6-3154637-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154637A>C , CM000668.2:g.3154637A>C | GRCh38 |
| NC_000006.11:g.3154871A>C , CM000668.1:g.3154871A>C | GRCh37 |
| NC_000006.10:g.3099870A>C | NCBI36 |
| NG_042223.1:g.7913T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.564T>G MANE Select | ENSP00000369703.2:p.Ser188= | |
| ENST00000679400.1:n.620T>G | ||
| ENST00000679907.1:n.952T>G | ||
| ENST00000680036.1:n.1346T>G | ||
| ENST00000680967.1:n.1654T>G | ||
| ENST00000333628.3:c.564T>G | ENSP00000369703.2:p.Ser188= | |
| ENST00000489942.1:n.759T>G | ||
| NM_001069.2:c.564T>G | NP_001060.1:p.Ser188= | |
| NM_001310315.1:c.309T>G | NP_001297244.1:p.Ser103= | |
| NM_001069.3:c.564T>G MANE Select | NP_001060.1:p.Ser188= | |
| NM_001310315.2:c.309T>G | NP_001297244.1:p.Ser103= |