Linked Data
ClinVar Variation Id:
2911214
dbSNP Id:
rs774527897
gnomAD v2:
3-180377486-A-C
gnomAD v3:
3-180659698-A-C
gnomAD v4:
3-180659698-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659698A>C , CM000665.2:g.180659698A>C | GRCh38 |
| NC_000003.11:g.180377486A>C , CM000665.1:g.180377486A>C | GRCh37 |
| NC_000003.10:g.181860180A>C | NCBI36 |
| NG_029581.1:g.24798T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.588T>G MANE Select | ENSP00000417960.2:p.Leu196= | |
| ENST00000650641.1:n.667T>G | ||
| ENST00000650889.1:n.760T>G | ||
| ENST00000651046.1:c.588T>G | ENSP00000499175.1:p.Leu196= | |
| ENST00000651818.1:n.730T>G | ||
| ENST00000652024.1:n.679T>G | ||
| ENST00000652408.1:n.725T>G | ||
| ENST00000442201.6:c.588T>G | ENSP00000405708.2:p.Leu196= | |
| ENST00000476379.5:c.588T>G | ENSP00000417960.1:p.Leu196= | |
| NM_181426.1:c.588T>G | NP_852091.1:p.Leu196= | |
| NM_181426.2:c.588T>G MANE Select | NP_852091.1:p.Leu196= |