Linked Data
ClinVar Variation Id:
1911498
ClinVar RCV Id:
RCV002578598
dbSNP Id:
rs941555581
gnomAD v2:
22-42458945-C-T
gnomAD v3:
22-42062941-C-T
gnomAD v4:
22-42062941-C-T
COSMIC:
COSM4637884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42062941C>T , CM000684.2:g.42062941C>T | GRCh38 |
| NC_000022.10:g.42458945C>T , CM000684.1:g.42458945C>T | GRCh37 |
| NC_000022.9:g.40788891C>T | NCBI36 |
| NG_009247.1:g.12902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.843G>A MANE Select | ENSP00000379680.3:p.Leu281= | |
| ENST00000396398.7:c.843G>A | ENSP00000379680.3:p.Leu281= | |
| ENST00000402937.1:c.843G>A | ENSP00000384603.1:p.Leu281= | |
| ENST00000403363.5:c.843G>A | ENSP00000385283.1:p.Leu281= | |
| NM_000262.2:c.843G>A | NP_000253.1:p.Leu281= | |
| XM_005261615.3:c.843G>A | XP_005261672.1:p.Leu281= | |
| XM_005261616.3:c.843G>A | XP_005261673.1:p.Leu281= | |
| NM_001362848.1:c.843G>A | NP_001349777.1:p.Leu281= | |
| NM_001362850.1:c.843G>A | NP_001349779.1:p.Leu281= | |
| NM_000262.3:c.843G>A MANE Select | NP_000253.1:p.Leu281= |